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Medical genetics
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What food is eliminated from the ration of patients with phenylketonuria?
A *Animal proteins
B Fruits
C Cereal products
D Vegetables
E Olive oil
What food is eliminated from the ration of patients with galactosemia?
A Animal protein
B *Cow milk
C Cereal products
D Vegetables
E Legumes
Name the disease that is characterized by inherited disorder of amino acid metabolism which is
accompanied with the increase of its concentration in blood and urine:
A Homocystinuria;
B Hypophosphatasia;
C *Phenylketonuria;
D Cystinuria;
E Galactosemia.
What smell is typical for phenylketonuria?
A Cabbage smell;
B Smell of sweaty feet;
C *Mouse or fusty;
D Smell of rotten fish;
E Smell of hop.
What symptom is typical for a glycogenosis?
A Nephrocalcinosis;
B B.Red spots on a retina;
C C.Opisthotonos;
D Glucosuria without a hyperglycaemia;
E *An accumulation of glycogen in internal organs, nervous system and lymphatic nodules.
What symptom is typical for Niemann–Pick disease?
A Nephrocalcinosis;
B *Red spots on a retina;
C opisthotonos
D Glucosuria without a hyperglycaemia;
E An accumulation of glycogen in internal organs, nervous system and lymphatic nodules.
Laboratory findings that are the characteristic for Niemann–Pick disease:
A *A presence of specific cells in puncture sample of bone marrow, spleen
B Glucosuria
C Absence of increase of glycemia after the lactose loading
D Positive Gatri’s test
E Positive Sulkovich’s test
Laboratory finding that is typical for phenylketonuria:
A A presence of specific cells in puncture sample of bone marrow, spleen
B Glucosuria
C Absence of increase of glycemia after the lactose loading
D *Positive Gatri’s test
E Positive Sulkovich’s test
The action of mutant gene at monogenic pathology shows up:
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A Only by clinical symptoms;
B *On clinical, biochemical and cellular levels
C Only on the particular stages of metabolism;
D Only by the loss of function of protein
E Does not show up clinically.
Neurofibromatosis is diagnosed on the basis of:
A Clinical and biochemical data;
B *Clinical presentation
C Research of enzyme type;
D Cytological research;
E Pathomorphologically only.
The etiologic factor of the monogenic inherited pathology is:
A Transference of a part of chromosome on another chromosome;
B * the change of DNA structure
C By interaction of genetic and external factors
D Deletion of a part of chromosome;
E Duplication
Basis for the diagnosis of Marfan syndrome is:
A Only complaints of patient;
B Only information of domestic anamnesis;
C *Characteristic set of clinical signs
D Biochemical data;
E Data of pathomorphologycal examination
Classification of gene illnesses is possible on the basis of:
A Age of patient at the onset of the disease;
B Sex of a sick child;
C Type of mutation;
D *Type of inheritance
E Character of dysmorphic signs
The diagnosis of cystic fibrosis is based on:
A Biochemical analysis;
B Data of ophthalmologic examination;
C *Sodium and chlorine content in a sweat
D Electromyography data;
E Results of nonclinic diagnostic measures.
What is not the characteristic sign of the Ehlers-Danlos Syndrome?
A Hyperelasticity of skin;
B Increased vulnerability of skin;
C *Mental retardation
D Prolaps of mitral valve;
E Scoliosis.
The Ehlers-Danlos syndrome is:
A Inherited defect of bone tissue;
B Inherited defect of epithelial tissue;
C Inherited defect of nervous tissue;
D Inherited defect of muscle tissue;
E *Inherited defect of connective tissue
How many forms of Ehlers-Danlos syndrome are identified in nowadays?
A 5;
B *10
C 8;
D 3;
E 12.
18 Bleeding at the Ehlers-Danlos syndrome is not caused:
A By the defect of vascular wall as a result of anomalousness of collogen;
B By the decrease of ability of collogen to predetermine аaggregation of thrombocytes;
C By the decrease of adhesiveness of thrombocytes;
D By the decrease of pulse wave speed as a result of decline of vascular wall elasticity.
E *By the decrease of number of thrombocytes
19 At the Ehlers-Danlos syndrome there are primary or secondary disorders:
A Only of nervous system;
B Only of cardiovascular system;
C Only of skin and joints;
D Of all organs and systems, except for central nervous system
E *Of all organs and systems
20 At the Ehlers-Danlos syndrome there are such changes of CNS:
A *Aneurisms of brain vessels
B Anomalies of brain tunics;
C Hydrocephaly;
D Anomalies of cranial nerves;
E Spinal hernia.
21 At the Ehlers-Danlos syndrome there are the following changes of digestive system:
A Gallstone disease;
B Spastic colitis;
C Dyspancreatism;
D Chronic hepatic insufficiency;
E *Gastroptosis;
22 At the Ehlers-Danlos syndrome there are the following changes of heart:
A Ventricular septal defect.
B Atrial septal defect.
C *Prolaps of mitral valve
D Patent ductus arteriosus.
E Mitral stenosis.
23 What deformations of joints are typical for Ehlers-Danlos syndrome?
A *Hyperextension of interphalangeal joints
B Contractures of knee-joints
C Arthralgia
D Fusiform deformation of elbows
E An increase in joints’ volume
24 What deformation of the thorax is typical for Ehlers-Danlos syndrome?
A Keeled chest
B Barrel chest
C *Flat back
D Deformations of collar-bones and ribs
E Rachitic rosary
25 The following change of urinary system takes place in patients with the Ehlers-Danlos syndrome:
A Oxaluria;
B Uraturia;
C Proteinuria;
D *Nephroptosis
E Leukocyturia.
26 Gene diseases are caused:
A By the change of the amount of autosomes;
B By the loss of the part of chromosome;
C Duplication of part of chromosome;
D D.By the loss of two and more genes;
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E *By the mutation of one gene
What syndrome is not considered as pathology of connective tissue?
A *Down syndrome;
B Marfan syndrome;
C Ehlers-Danlos syndrome
D Mucopolysaccharidosis ;
E Unaccomplished osteogenesis.
The involvement of cardiovascular system at the Marfan syndrome to 40 years of age shows up:
A *By aneurysm of aorta
B By forming of mitral valve heart-disease;
C By the transposition of main vessels;
D By myocardial infection;
E By the vascular dystonia
What heart defect is typical for the Marfan syndrome in childhood?
A Aortic stenosis;
B Forming of mitral defect of a heart;
C Transposition of main vessels;
D Myocardial infarction;
E *Prolaps of mitral valve
What changes in skeleton is typical for the Marfan syndrome?
A Rounded face;
B *Arachnodactyly
C Short extremities;
D Small stature;
E Acromegalia.
What changes of skeleton is typical for the Marfan syndrome?
A Short bones of extremities;
B Salient chin;
C *Predominance of height of body above mass
D Predominance of mass of body above height;
E Acromegalia.
What changes in organ of vision is typical for the Marfan syndrome, except for?
A Spherephakia;
B Subluxation;
C Retinal detachment;
D *Cataract
E Flattening of cornea.
The involvement of the pulmonary system shows up at the Marfan syndrome:
A By bronchitis;
B By pneumosclerosis;
C *By spontaneous pneumothorax
D By the pulmonary atelectasis ;
E By frequent pleuritis.
The involvement of the central nervous system shows up at Marfan syndrome:
A By meningitis;
B By encefalitis;
C *Lumbar-coccygeal meningocele
D By hydrocranium;
E By encephalopathy.
Reproductive function at the Marfan syndrome:
A Is absent;
B *Is normal
C Sharply depressed;
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D Hypogonadism;
E Hermaphroditism.
After what age the changes of CNS resulting from the innate hypothyroidism become irreversible in the
absence of treatment :
A 2-4 weeks of life
B *4-6 weeks life
C 6-10 weeks life
D 10-12 weeks life
E 12-14 weeks life
Manifestation of mild variants of innate hypothyroidism can take a place in age of:
A from the moment of birth
B *2-5 years
C 6-7 years
D 7-10 years
E in adults
Manifestation of mild variants of innate hypothyroidism may take place in the age:
A from the moment of birth
B 6-8 years
C 8-10 years
D *in the period of puberty
E adult
Thyroid gland in the absolute majority of children with an innate hypothyroidism:
A is not changed
B tuberous (knobby)
C smooth
D hyperplastic
E *hypoplastic
The medicine of choice for treatment of innate hypothyroidism is:
A mercasolil
B prednisolon
C *thyroxin
D мetisol
E imidazole
What is typical for an innate hypothyroidism?
A *prolonged jaundice
B incomplete pregnancy
C deficit of weight according to the gestation age
D diarrhea
E early falling off of umbilical remain
42 The following method is used for the confirmation of diagnosis of innate hypothyroidism:
A Ultrasound examination of thyroid gland
B Determination of thyrotrophic hormones levels in mother
C Determination of autoantibodies in the mother’s blood
D Determination of thyrotrophic hormones levels in a child*
E Puncture biopsy of thyroid
43 What is typical for an innate hypothyroidism?
A prolonged pregnancy*
B incomplete pregnancy
C innate malnutrition
D diarrhea
E early falling off of umbilical remain
44 What is typical for an innate hypothyroidism?
A birth overweight*
B birth weight deficits
C frequent diarrhea
D agitation
E innate malnutrition
45 What is typical for an innate hypothyroidism?
A Constipation*
B diarrhea
C early falling off of umbilical remain
D innate malnutrition
E agitation
46 What hormones levels are typical for an innate hypothyroidism?
A decline of T4 level, increase of T3 level
B increase of T4 level, decline of T3 level
C decline of level of T4, T3, TSH(thyroid stimulating hormone)
D decline of level of T4, T3 and increase of level of TSH*
E increase of level of T4, T3, TSH
47 What is not a subject of study of medical genetics?
A Causes of origin of the inherited diseases of human
B Character of inheritance by descendants
C Prevalence of the inherited diseases in population
D Specific processes of inheritance on cellular and molecular levels
E *The role of conditions of external environment in development of acute infectious pathology,
traumas and poisonings
48 Centromere is:
A Measure of body
B A structure at the end of a shoulder of chromosome
C Pericentral part of chromosome
D Satellite
E *Chromosomal strangulation, dividing a chromosome into two parts
49 Pathologically small mouth is described as a:
A Micrognathia
B Micromelia
C *Microstomia
D Miсrokoria
E Sinfriz
50 What develops as a result of action of teratogens:
A *Gene mutations
B Aneuploidy
C Structural alterations of chromosomes
D Phenocopies
E Gene copies
51 At what period of cell cycle do chromosomes acquire the doubled structure?
A G-0
B G-1
C S
D G-2
E *During mitosis
52 Which chromosomes do belong to the group C?
A Large mediacentric
B Small mediacentric
C Middle acrocentric
D *Middle submediacentric
E Large submediacentric
53 What chromosomes do belong to the group A?
A *Large mediacentric
B Small mediacentric
C Middle acrocentric
D Middle submediacentric
E Large submediacentric
54 Which chromosomes do belong to the group B?
A Large mediacentric
B Small mediacentric
C Middle acrocentric
D Middle submediacentric
E *Large submediacentric
55 Which groups of human chromosomes are classified on by size and position of centromere?
A *A, B, C, D, E, F, G
B 1, 2, 3, 4
C The first, the second, the third, the fourth
D A, B, C
E I, II, III, IV, V
56 Which chromosomes do belong to the group F?
A Large mediacentric
B *Small mediacentric
C Middle acrocentric
D Middle submediacentric
E Large submediacentric
57 What is a cause of chromosomal disease?
A Disorder of amount of chromosomes
B *Disorder of structure of chromosomes
C Disorder of structure of one gene
D Simultaneous disorder in the structure of several genes
E environment factors
58 What is the cause of monogenic diseases?
A Disorder of amount of chromosomes
B Disorder of structure of chromosomes
C *Disorder of structure of one gene
D Simultaneous disorder in the structure of several genes
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E contingency
What is a cause of multifactorial diseases?
A Disorder of amount of chromosomes
B Disorder of structure of chromosomes
C Disorder of structure of one gene
D *Simultaneous disorder in the structure of several genes
E only environmental factors
Which method is used for the study of genetic and environmental factors?
A Clinic genealogy
B *Genetic
C Microbiological
D Cytological
E Twin study
What chromosomes do belong to the group G:
A Large acrocentric
B *Small acrocentric
C Small metacentric
D Middle metacentric
E Large submetacentric
The haploid number is contained in the following cells:
A Neurons
B Hepatocytes
C Zygotes
D *Gametes
E Epithelial
The programmed death of a cell is called:
A *Apoptosis
B Necrosis
C Degeneration
D Chromatolisis
E Mutation
Colchicine stops the dividing of a cell on the following stage:
A Anaphases
B Prophase
C *Metaphase
D Telophase
E All of them
Chromosomal mutation - is:
A Change of number of chromosomes
B *Change of chromosome structure
C Transfer of centromere along the chromosome
D Disbalance with heterochromatin
E Simultaneous disorder in the structure of several genes
Genome mutation – is a:
A Disorder of the structure of gene
B *Change of the number of chromosomes
C Accumulation of intron repetitions
D Change of structure of chromosomes
E Simultaneous disorder in the structure of several genes
A teratogen is a factor, that:
A Affects DNA, creating inheritable changes in it
B Causes changes in chromosomal complex
C *Causes anatomic disorders of foetus
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D Determines appearance of gene copies
E Affects DNA
What cells do not contain 46 chromosomes:
A *Gametes
B Myocytes
C Neurons
D Hepatocytes
E Epithelial cells
In case of mental retardation and mongoloid slant in a child what disease could be suspected?
A Galactosemia;
B *Down syndrome
C Edward syndrome;
D Syndrome of «cat-like scream»;
E Phenylketonuria.
At presence of mental retardation and cleft upper lip and palate in a child it is possible to suspect:
A Galactosemia;
B *Patau syndrome
C Down syndrome;
D Syndrome of «cat-like scream»;
E Phenylketonuria.
At presence of mental retardation together with the changes of neurocranium of face and other
dismorphic signs it is possible to suspect:
A Galactosemia;
B Down syndrome;
C *Edward syndrome
D Syndrome of «cat-like scream»;
E Phenylketonuria.
At presence of mental retardation together with moon-like face and specific voice it is possible to
suspect:
A Galactosemia;
B Down syndrome;
C Edward syndrome;
D *Syndrome of «cat-like scream»
E Phenylketonuria.
At presence of mental retardation and sexual underdevelopment in teenager it is possible to suspect:
A Galactosemia;
B Down syndrome;
C Edward syndrome;
D Syndrome of «cat-like scream»;
E *Klinefelter syndrome
Prenatal retardation together with the changes of bones and other dismorphies in newborn child give the
possibility to suspect:
A Galactosemia;
B Cystic fibrosis;
C *Edward syndrome
D Syndrome of «cat-like scream»;
E Phenylketonuria.
Trisomy 18 is:
A Down syndrome;
B Patau syndrome;
C *Edward syndrome
D Mosaicism;
E Syndrome of «cat-like scream»;
76 Trisomy 21 is:
A *Down syndrome
B Patau syndrome;
C Edward syndrome;
D Mosaicism;
E Syndrome of «cat-like scream»
77 Trisomy 13 is:
A Down syndrome;
B *Patau syndrome
C Edward syndrome;
D Mosaicism;
E Syndrome of «cat-like scream»;
78 Partial monosomy of 5th chromosome is:
A Down syndrome;
B Patau syndrome;
C Edward syndrome;
D Mosaicism;
E *Syndrome of «cat-like scream»
79 A determinant factor in differential diagnostics of chromosomal illnesses is:
A Assessment of mental development;
B Assessment of sexual development;
C *Cytogenetic research
D Assessment of physical development;
E Ultrasound
80 Specify the correct karyotype formula of Turner syndrome:
A *46XX/45XO
B 46XX,5pC 47XXY
D 47 XY,13+
E 47 XX,18+
81 Specify the correct karyotype formula of Edward syndrome:
A 46XX/45XO
B 46XX,5pC 47XXY
D 47 XY,13+
E *47 XX,18+
82 Specify the correct karyotype formula of «cat-like scream» syndrome:
A 46XX/45XO
B *46XX,5pC 47XXY
D 47 XY,13+
E 47 XX,18+
83 Specify the correct karyotype formula of Patau syndrome:
A 46XX/45XO
B 46XX,5pC 47XXY
D *47 XY,13+
E 47 XX,18+
84 Specify the correct karyotype formula of Down syndrome:
A 46XX/45XO
B 46XX,5pC 47XXY
D 47 XY,13+
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E *47 XX,21+
Specify the correct karyotype formula of Turner syndrome:
A *46XX/45XO
B 46XX,5pC 47XXY
D 47 XY,13+
E 47 XX,18+
What is typical for chromosomal diseases?
A *Lag in mental development
B Presence of teleangiectasias on a skin;
C Unusual color of skin;
D Unusual color and smell of feces;
E big growth
What is characteristic for the chromosomal diseases?
A Good mental development;
B Presence of teleangiectasias on skin;
C Unusual color of skin;
D Unusual color of eyes;
E *Plural dismorphies
What is characteristic for the chromosomal diseases?
A Good mental development;
B Presence of teleangiectasias on a skin;
C Unusual color of skin;
D *Numerous developmental defects
E big growth
Which pathology is present in a child with кaryotype 47 XY+21?
A Klinefelter syndrome
B *Down syndrome
C Innate hypothyroidism
D Phenylketonuria
E Patau syndrome
90 What changes in skeleton is typical for the Marfan syndrome?
A Short bones of extremities
B Salient chin
C Predominance of height of body above mass*
D Predominance of mass of body above height
E Acromegalia
91 What medical tactic is not applied to patients with the Marfan syndrome?
A Regular medical check-ups of narrow specialists
B Limitation of physical activity
C Replacement therapy with corticosteroids*
D Propranolol
E Reconstructive cardiovascular operations
92 What disease is considered to be a lysosomal storage disorder?
A Hiperlipoproteinemia
B Mucoviscidosis
C mucopolysaccharidosis *
D Galactosemia
E Albinism
93 All mentioned below are clinical signs of mucopolysaccharidosis, except for:
A Gigantism*
B Disproportion body-build
C normal mental development
D Hypertrichosis
E Poor hearing
94 All mentioned below are clinical signs of mucopolysaccharidosis type I, except for:
A Microcephaly*
B Disproportion body-build
C Mental retardation
D Hypertrichosis
E Poor hearing
95 What medical measures are not used for treatment of mucopolysaccharidosis?
A Surgical correction of heart (valvular) diseases
B Surgical correction of pathological mobility cervical vertebras
C Replacement therapy with hormones
D Replacement therapy with enzymes*
E Correction of behavioral problems
96 What group of diseases does mucopolysaccharidosis belongs to?
A lusosomal disorders*
B mitochondrial
C monogenic
D chromosomal
E multifactorial
97 Type I Neurofibromatosis is characterized by the development of:
A Multiple neurofibromas in hypoderma without Lish’s nodules;
B Bilateral neuromas of auditory nerve;
C Intraocular tumor of retina;
D Palmar neurofibromas;
E Multiple neurofibromas in hypoderma and Lish’s nodules*
98 Type II Neurofibromatosis is characterized by the development of:
A Multiple neurofibromas in hypoderma without Lish’s nodules;
B Bilateral neuromas of auditory nerve*
C Intraocular tumor of retina;
D Palmar neurofibromas;
E Multiple neurofibromas in hypoderma and Lish’s nodules;
99 Type III Neurofibromatosis is characterized by the development of:
A Multiple neurofibromas in hypoderma without Lish’s nodules;
B Bilateral neuromas of auditory nerve;
C Intraocular tumor of retina;
D Palmar neurofibromas*
E Multiple neurofibromas in hypoderma and Lish’s nodules;
100 Type IV Neurofibromatosis is characterized by the development of:
A Multiple neurofibromas in hypoderma without Lish’s nodules*
B Bilateral neuromas of auditory nerve;
C Intraocular tumor of retina;
D Palmar neurofibromas;
E Multiple neurofibromas in hypoderma and Lish’s nodules;
101 Retinoblastoma is characterized by the development of:
A Multiple neurofibromas in hypoderma without Lish’s nodules;
B Bilateral neuromas of auditory nerve;
C Intraocular tumor of retina*
D Palmar neurofibromas;
E Multiple neurofibromas in hypoderma and Lish’s nodules;
102 What smell is typical for phenylketonuria?
A Smell of sweaty feet;
B Mouse or fusty*
C Cabbage smell;
D Smell of rotten fish;
E Smell of hop.
103 What sign is typical for a glycogenosis?
A Nephrocalcinosis
B Red spots on a retina
C Opisthotonos
D Glucosuria without a hyperglycaemia
E An accumulation of glycogen in internal organs, nervous system and lymphatic nodules*
104 The action of mutant gene at monogenic pathology shows up:
A Only by clinical symptoms;
B On clinical, biochemical and cellular levels*
C Only on the particular stages of metabolism;
D Only by the loss of function of protein
E Does not show up clinically.
105 How Neurofibromatosis is diagnosed?
A Clinicaly and biochemicaly*
B Clinicaly
C Research of enzyme type
D Cytological research
E morphologically only
106 What is the etiologic factor of the monogenic inherited pathology?
A Transference of a part of chromosome on another chromosome
B By the change of DNA structure*
C By interaction of genetic and external factors
D Deletion of a part of chromosome
E Duplication
107 How Marfan syndrome is diagnosed?
A Only based on patient’s complaints
B Only based on anamnesis of life
C based on clinical signs and family anamnesis*
D Only based on biochemical data
E Only based on morphology data
108 Classification of gene illnesses is based on:
A Age of patient at the onset of the disease
B Sex of a sick child
C Type of mutation
D Type of inheritance*
E Character of dysmorphic signs
109 The diagnosis of cystic fibrosis is based on:
A Biochemical hemanalysis
B Data of ophthalmologic examination
C sweat test*
D Electromyography data
E Results of clinical examination
110 What is the typical sign of the Ehlers–Danlos syndrome?
A Hyperelasticity of skin*
B Increased vulnerability of skin
C Mental retardation
D Prolaps of mitral valve
E Scoliosis
111 What is it Ehlers-Danlos syndrome?
A Inherited defect of bone tissue
B Inherited defect of mucose tissue
C Inherited defect of nervous tissue
D Inherited defect of muscle tissue
E Inherited defect of connective tissue*
112 At the Ehlers-Danlos syndrome there are primary or secondary disorders of…:
A nervous system only
B Cardiovascular system only
C skin and joints only
D all organs and systems, except for central nervous system
E all organs and systems *
113 At the Ehlers-Danlos syndrome there are the following changes of digestive system:
A Gastroptosis
B Spastic colitis
C Dyspancreatism
D Chronic hepatic insufficiency
E Gallstone disease*
114 At the Ehlers-Danlos syndrome there are the following changes of heart:
A Ventricular septal defect
B Atrial septal defect
C Prolaps of mitral valve*
D Patent ductus arteriosus
E Mitral stenosis
115 What does medical genetics study?
A The basic laws of heredity of the organism.
B Basic laws of variation of the organism.
C The basic laws of heredity and variation of the body*
D The nature of different diseases.
E The prevention of hereditary diseases.
116 What is the main aim the medical genetics?
A Study of inheritance.
B Examine the role of heredity in human pathology.
C Develop methods for diagnosis of hereditary diseases.
D Treat and prevent hereditary diseases.
E All of the above*
117 Which section of medical genetics determines the prognosis for posterity?
A Clinical Genetics*
B Cytological genetics
C Molecular genetics.
D Genetics of development.
E Population genetics.
118 The main sections of medical genetics are all of the above, except of:
A Biochemical Genetics.
B Immunological Genetics.
C Study of the human genome.
D Ultrasound diagnostic*
E Genetics of development.
119 Which section of medical genetics is used for making correct diagnosis, adequate treatment and
prevention of hereditary diseases?
A Biochemical Genetics
B Immunological Genetics
C Study of the human genome.
D Clinical Genetics*
E Genetics of development
120 To what type of metabolic error does Alactasia belong to?
A Protein metabolism
B Lipid metabolism
C Carbohydrate metabolism *
D mucopolysaccharides metabolism
E Vitamin metabolism
121 The diagnostic data for hereditary diseases include everything, except for:
A Genetic history
B
C
D
E
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B
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D
E
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B
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B
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A
Disembriogenetic signs
Low weight at birth
Epidemiological history *
Peculiarities of dermatoglyphics
Marfan syndrome belongs to:
Anomalies of autosomes
Metabolism of proteins
Syndrome of partial deletions of autosomes
Disturbances of lipid metabolism
Disturbances of synthesis fibrilin *
Mucopolysaccharidosis belongs to:
Anomalies of autosomes
Metabolism of proteins
Syndrome of partial deletions of autosomes
Ancestral pigment hepatosis
Metabolic mucopolysaccharides *
Galaсtosemia applies to violations of:
Protein metabolism.
Lipid metabolism.
Carbohydrate metabolism*
Exchange mucopolysaccharides.
Vitamin metabolism.
Phenylketonuria belongs to errors of:
Protein metabolism. *
Lipid metabolism.
Carbohydrate metabolism.
methionine metabolism
mucopolysaccharides metabolism
What are the objects of study of clinical genetics?
Sick people
Sick people and their relatives
The patient and all members of his family along with the healthy *
Infertile women
Infertile men
What is it “the congenital (initiated)” disease?
Disease caused by mutation of genes
Disease caused by negative environmental factors
Disease that manifested at birth *
not curable diseases
None of the above
What does the term Proband mean?
A sick child whose parents go to a doctor
A healthy child whose parents contacted the medical and genetic counseling
a person serving as the starting point for the genetic study of a family *
The child who first came under the supervision of a physician-geneticist
Newborn
What does the term Phenotype mean?
Habitus (general constitution) of the patient
B the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
C the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment*
D the genetic constitution of an individual organism
E Right answer is absent
130 What does the term Genotype mean?
A Habitus (general constitution) of the patient
B Right answer is absent
C the genetic constitution of an individual organism*
D the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment
E the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
131 What does the term Karyotype mean?
A Habitus (general constitution) of the patient
B the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
C the genetic constitution of an individual organism*
D the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment
E Right answer is absent
132 What do the terms Sibs or Siblings mean?
A The family proband
B children having one or both parents in common*
C Family probands who personally examined by a doctor, geneticist
D Family mother
E Family father
133 Which symptoms are not typical for autosomal recessive type of inheritance?
A The disease occurs equally in men and women
B affected parents can have healthy children*
C Parents of patient are clinically (by phenotype) healthy
D The parents are blood relatives.
E The more children in the family, the more children are affected
134 What does not typical for X-linked dominant type of inheritance?
A The disease occurs equally in men and women*
B Sons of affected father will be healthy
C The risk gave birth to affected child, regardless of sex, in affected mother consists 50 %
D The disease can be diagnosed in every generation
E Daughters of affected father will be also affected
135 What does not typical for X-linked recessive type of inheritance?
A The disease occurs mainly in men
B All phenotypically healthy daughters of males are carriers
C affected men transmit the pathological allele to 50 % of sons *
D affected boy may has affected brothers and uncles in the case of inheritance from carrier mother
E Healthy males do not transmit disease
136 What does not typical for mitochondrial inheritance?
A
B
C
D
E
The disease is transmitted only by mothers
Boys can be affected
Girls can be affected
Affected men do not transmit disease
Affected women transmit the disease 50 % of children *
137 The risk for manifestation of the inherited disease in posterity is much higher if the spouses (husband
and wife) and their parents are from one region. This statement is true for…
A X-linked recessive type of inheritance
B Autosomal recessive type of inheritance *
C Autosomal dominant with incomplete penetrance
D Cytoplasmic inheritance
E X-linked dominant type of inheritance
138 What does the term arachnodactylia mean?
A abnormal long fingers and toes*
B abnormal thick fingers and toes
C abnormal number of fingers and toes
D Congenital connected fingers or toes
E Cutaneous fold between fingers or toes
139 Modern classification of chromosomes takes to a count different distinctive features of chromosomes,
except:
A intensity of colouring*
B The speciality of cross-striation in distinctive colouring
C The size of the centromere
D Placement of the centromere
E Length of the chromosome’s arms
140 What does term Acrocentric chromosome mean?
A the chromosome with terminal placing of centromeres *
B the chromosome with central placing of centromeres, and length of the chromosome’s arms are equal
C the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal
D the chromosome with two centromeres
E the chromosome without centromere
141 What does term Metacentric chromosome mean?
A the chromosome with terminal placing of centromeres
B the chromosome with central placing of centromeres, and length of the chromosome’s arms are
equal*
C the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal
D the chromosome with two centromeres
E the chromosome without centromere
142 What does term Submetacentric chromosome mean?
A the chromosome with terminal placing of centromeres
B the chromosome with central placing of centromeres, and length of the chromosome’s arms are equal
C the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal*
D the chromosome with two centromeres
E the chromosome without centromere
143
A
B
C
D
E
144
A
B
C
D
E
145
A
B
C
D
E
146
A
B
C
D
E
147
A
B
C
D
E
148
A
B
C
D
E
149
What does term Disomy mean?
the condition of having a chromosome represented twice in a chromosomal complement
the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner*
a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
the property or state of being composed of cells of two genetically different types
presence a few chromosomes
What does term Monosomy mean?
the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner*
the condition of having a chromosome represented twice in a chromosomal complement
a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
the property or state of being composed of cells of two genetically different types
presence a few chromosomes
What does term Trisomy mean?
the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
the condition of having a chromosome represented twice in a chromosomal complement
a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities*
the property or state of being composed of cells of two genetically different types
presence a few chromosomes
What does term Mosaicism mean?
the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
the condition of having a chromosome represented twice in a chromosomal complement
a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
the property or state of being composed of cells of two genetically different types*
presence a few chromosomes
What does term Polysomy mean?
the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
the condition of having a chromosome represented twice in a chromosomal complement
a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
the property or state of being composed of cells of two genetically different types
presence a few chromosomes*
What is the type of inheritance of the Niemann–Pick disease (sphingolipidoses)?
Recessive, X-linked
Autosomal recessive *
Dominant, X-linked
Autosomal dominant
Coupled with a Y-chromosome
What cellular structures are carriers of hereditary information?
A
B
C
D
E
150
A
B
C
D
E
151
A
B
C
D
E
152
A
B
C
D
E
153
A
B
C
D
E
154
A
B
C
D
E
155
A
B
C
D
E
156
A
B
C
D
E
Ribosomes
Membranes
Chromosomes*
Lysosomes
Endoplasmic reticulum
How many chromosomes are in somatic human cells?
23
46*
69
92
98
How many chromosomes are in the sperm of a man?
23*
46
69
92
98
What is Sexual chromatin?
Chromatin of sex cells
Chromatin of somatic cells
Helical inactive X chromosome*
active chromosome
Right answer is absent
What is the different between male and female karyotype?
The number of chromosomes
The number of autosomes
The number of sex chromosomes
Quality and format of sex chromosomes *
Quality and format of autosomes
Mosaicism appears as a mistake of...:
Mitosis*
Meiosis
Reproduction
Crossing
Right answer is absent
What is autosome?
Asexual cell
any chromosome that is not a sex chromosome*
sex chromosome
A set of human chromosomes
A set of genes of an organism
Why dizygotic twins are not identical?
Due to different genotypes
Due to the influence of the environment
Due to different karyotypes
Due to different genotypes and the influence of the environment *
No differences
How many chromosomes have a karyotype of child with monosomy of 21st chromosome?
A 43
B 45*
C 46
D 47
E 48
158 With any form of variability due to the difference between identical twins reared in different
conditions:
A Different genotypes
B Modification
C Phenotype *
D Combinativity
E Genotype
159 The predisposition to diseases caused by:
A Genotype *
B Environment
C Lifestyle
D Risk factors
E Habits
160 What does term Mutation mean?
A Sudden unexpected changes in individual genotype *
B Directional heritable changes occurring under the influence of environment
C Changes occurring under the influence of smoking
D Changes occurring under the influence of alcohol abuse
E Changes occurring under the influence of drug abuse
161 How does too little mouth named?
A Micrognathia
B Micromelia
C Microstomia*
D Miсrokoria
E Sinfriz
162 What does develop due to teratogen?
A Gene mutation*
B Aneuploidy
C Structural alterations of chromosomes
D Phenocopies
E Gene copies
163 In what groups do human chromosomes classified on by size and position of centromere?
A A, B, C, D, E, F, G*
B 1, 2, 3, 4
C The first, the second, the third, the fourth
D A, B, C
E I, II, III, IV, V
164 Which chromosomes do belong to the group F?
A Large mediacentric
B Small mediacentric*
C Middle acrocentric
157
D Middle submediacentric
E Large submediacentric
165 What is a cause chromosomal disease?
A Disorder of amount of chromosomes
B Disorder of structure of chromosomes*
C Disorder of structure of one gene
D Simultaneous disorder in the structure of several genes
E Right answer is absent
166 What is cause of monogenic diseases?
A Disorder of amount of chromosomes
B Disorder of structure of chromosomes
C Disorder of structure of one gene*
D Simultaneous disorder in the structure of several genes
E Right answer is absent
167 What is it multifactorial disease?
A Disorder of amount of chromosomes
B Disorder of structure of chromosomes
C Disorder of structure of one gene
D Simultaneous disorder in the structure of several genes*
E Right answer is absent
168 Which method does use for the study of genetic and environmental factors?
A Clinic genealogy
B Genetic*
C Microbiological
D Cytological
E Twin study
169 Which chromosomes belong to the group G?
A Large acrocentric
B Small acrocentric*
C Small metacentric
D Middle metacentric
E Large submetacentric
170 In what cells does the haploid number of chromosomes contained?
A Neurons
B Hepatocytes
C Zygotes
D Gametes*
E Epithelial
171 How does the programmed death of a cell called?
A Apoptosis*
B Necrosis
C Degeneration
D Chromatolisis
E Mutation
172 In what stage does Colchicine stop the dividing of a cell in vitro?
A Anaphase
B Prophase
C Metaphase*
D Telophase
E Right answer is absent
173 What term Metaphase mean?
A the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers*
B the final phase of cell division, between anaphase and interphase, in which the chromatids or
chromosomes move to opposite ends of the cell and two nuclei are formed Disbalance with
heterochromatin
C the first stage of cell division, during which the chromosomes become visible as paired chromatids
and the nuclear envelope disappears
D the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
E Right answer is absent
174 What does term Telophase mean?
A the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
B the final phase of cell division, between anaphase and interphase, in which the chromatids or
chromosomes move to opposite ends of the cell and two nuclei are formed Disbalance with
heterochromatin*
C the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears
D the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
E Right answer is absent
175 What does term Prophase mean?
A the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
B the final phase of cell division, between anaphase and interphase, in which the chromatids or
chromosomes move to opposite ends of the cell and two nuclei are formed Disbalance with
heterochromatin
C the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears*
D the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
E Right answer is absent
176 What does term Anaphase mean?
A the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
B the final phase of cell division, between anaphase and interphase, in which the chromatids or
chromosomes move to opposite ends of the cell and two nuclei are formed Disbalance with
heterochromatin
C the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears
D the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle*
E Right answer is absent
177
A
B
C
D
E
178
A
B
C
D
E
179
A
B
C
D
E
180
A
B
C
D
E
181
A
B
C
D
E
182
A
B
C
D
E
183
A
What does term Chromosomal mutations mean?
Change of number of chromosomes
Change of chromosome structure, distinguished through a light microscopy*
Transfer of centromere along the chromosome
Disbalance with heterochromatin
Right answer is absent
What does term Genome mutation mean?
Disorder of the structure of gene
Change of the number of chromosomes*
Accumulation of intron repetitions
Change of structure of chromosomes
Loss of chromosomes in meiosis
What does term Meiosis mean?
a type of cell division that results in two daughter cells each with half the chromosome number of the
parent cell, as in the production of gametes*
a type of cell division that results in two daughter cells each having the same number and kind of
chromosomes as the parent nucleus, typical of ordinary tissue growth
Change of the number of chromosomes
the action of carefully choosing genes or chromosomes as being the best or most suitable
the exchange of genes between homologous chromosomes, resulting in a mixture of parental
characteristics in offspring
What does term Mitosis mean?
a type of cell division that results in two daughter cells each with half the chromosome number of the
parent cell, as in the production of gametes
a type of cell division that results in two daughter cells each having the same number and kind of
chromosomes as the parent nucleus, typical of ordinary tissue growth*
Change of the number of chromosomes
the action of carefully choosing genes or chromosomes as being the best or most suitable
the exchange of genes between homologous chromosomes, resulting in a mixture of parental
characteristics in offspring
What does term Crossing-over mean?
a type of cell division that results in two daughter cells each with half the chromosome number of the
parent cell, as in the production of gametes
a type of cell division that results in two daughter cells each having the same number and kind of
chromosomes as the parent nucleus, typical of ordinary tissue growth
Change of the number of chromosomes
the action of carefully choosing genes or chromosomes as being the best or most suitable
the exchange of genes between homologous chromosomes, resulting in a mixture of parental
characteristics in offspring*
What does term Teratogen mean?
Affects DNA, creating inheritable changes in it
Causes changes in chromosomal complex
an agent or factor that causes malformation of an embryo*
Determines appearance of gene copies
Causes functional disorders of pregnancy
What cells don’t contain 46 chromosomes?
Gametes*
B
C
D
E
Myocytes
Neurons
Hepatocytes
Epithelial cells
184 What examination will be helpful for confirming the diagnosis of phenylketonuria in a new-born
child after five days of life?
A Determination protein in a blood
B Apt’s test
C Gatri’s test*
D Determination of chlorides in sweat
E Sulkovich’s test
185 What method will be helpful for the diagnostics of Phenylketonuria in a new-born child?
A Determination protein in a blood
B Apt’s test
C Felling’s test*
D Determination of chlorides in sweat
E Sulkovich’s test
186 What disease doctor can suspect in the baby with mental retardation and mouse-like smell of sweat?
A Galactosemia
B Down’s disease
C Edvard’s syndrome
D «Cat-like scream» syndrome
E Phenylketonuria*
187 Kerns-Sare syndrome and Leber hereditary optic neuropathy are noted in both males and females but
are inherited only through the mother. These are examples of
A uniparental disomy
B *mitochondrial inheritance
C anticipation
D X-linked recessive inheritance
E X-linked dominant inheritance
188 What organs are more frequently involved in a process at mitochondrial pathology:
A Nervous system.
B Organs of sight.
C Heart.
D Somatic muscles.
E *All mentioned above.
189 Type of inheritance of mitochondrial DNA:
A From mothers to daughters.
B From mothers to sons.
C *From mothers to daughters and sons.
D Paternal type.
E All mentioned.
190 At mitochondrial diseases most often are affected:
A *Brain.
B Kidneys.
C Hypothalamus.
D Thyroid gland.
E Pancreas.
191 The involvement of brain at mitochondrial diseases shows up :
A
B
C
D
E
192
A
B
C
D
E
193
A
B
C
D
E
194
A
B
C
D
E
195
A
B
C
D
E
196
A
B
C
D
E
197
A
B
C
D
E
198
A
B
C
D
E
199
A
B
C
D
As prenatal encephalopathy.
Perinatal encephalopathy.
Increase of the sensitiveness.
*Pre- and perinatal encephalopathy.
All mentioned above.
The involvement of skin at mitochondrial diseases shows up as :
Hyperpigmentation
Depigmentation.
Atrophy.
Oligotrophy.
*Early aging.
An involvement of kidneys at mitochondrial diseases takes place as:
Nephrotubular acidosis.
Hypophosphatasia.
*Toni-Debre-Fankoni’s disease.
Vitamin-D dependent rachitis.
Vitamin-D resistant rachitis.
The next endocrine disorders are present at mitochondrial diseases:
Hyperglycaemia.
Excess of growth hormone.
Hyperparathyroidism.
*Hyperaldosteronism.
Excessive growth.
The next endocrine disorders are present at mitochondrial diseases:
Hyperglycaemia.
Excess of growth hormone.
Hyperparathyroidism.
*Hypoglycemia.
Excessive growth.
A biopsy of what organ serves for morphological research in case of mitochondrial pathology?
Skin.
Muscles.
Kidneys.
Liver.
Brain.
The “Lacerated red fibres” syndrome carries the name of :
Leber’s.
Kerns-Seir’s.
Pirson’s.
*MERRF.
MELAS.
The early sign of MERRF syndrome is:
Perceptive deafness.
Disorder of vibratory.
Disorder of kinesthesia.
Moderate signs of myopathy.
*Rapid fatigability during the physical activity.
The early sign of MERRF syndrome is:
Perceptive deafness.
Disorder of vibratory.
Disorder of kinesthesia.
Moderate signs of myopathy.
E *Ache in calf muscles.
200 The early sign of MERRF syndrome is:
A Perceptive deafness.
B Disorder of vibratory.
C Disorder of kinesthesia.
D Moderate signs of myopathy.
E *Memory loss.
201 The early sign of MERRF syndrome is:
A Perceptive deafness.
B Disorder of vibratory.
C Disorder of kinesthesia.
D Moderate signs of myopathy.
E *Attention deficit.
202 The late sign of MERRF syndrome is:
A *Perceptive deafness.
B Rapid fatigability during the physical activity..
C Ache in calf muscles.
D Worsening of memory.
E Attention deficit.
203 The late sign of MERRF syndrome is:
A *Generalized tonic-clonic cramps.
B Rapid fatigability during the physical activity..
C Ache in calf muscles.
D Worsening of memory.
E Attention deficit.
204 The late sign of MERRF syndrome is:
A *Moderate signs of myopathy.
B Rapid fatigability during the physical activity.
C Ache in calf muscles.
D Worsening of memory.
E Attention deficit.
205 The late sign of MERRF syndrome is:
A *Disorder of vibratory.
B Rapid fatigability during the physical activity.
C Ache in calf muscles.
D Worsening of memory.
E Attention deficit.
206 The late sign of MERRF syndrome is:
A *Disorder of kinesthesia.
B Rapid fatigability during the physical activity.
C Ache in calf muscles.
D Worsening of memory
E Attention deficit.
207 Most typical symptom complex at the MERRF syndrome includes:
A Perceptive deafness and neurological disorders.
B *Progressive myoclonus-epilepsy which includes a myoclonus.
C Sensorial disorders and deafness.
D Тonic-clonic cramps and attention deficit.
E All is correct
208 A myoclonus at the MERRF syndrome is predetermined by involving in the pathological process of:
A CNS and dementia.
B
C
D
E
209
A
B
C
D
E
210
A
B
C
D
E
211
A
B
C
D
E
212
A
B
C
D
E
213
A
B
C
D
E
214
A
B
C
D
E
215
A
B
C
D
E
216
A
B
C
D
E
CNS and аtaxia.
*CNS, ataxia, dementia.
Ataxia and dementia.
Dementia.
Sensitiveness at the syndrome of MERRF is:
Affected.
Not affected.
The superficial is affected.
*The deep is affected.
Depends on severity of the pathological process.
The course of disease at the MERFF syndrome is:
Acute.
Recurrent.
Chronic.
*Progressive.
Protracted.
Age of manifestation of MERFF syndrome varies:
From 3 to 14 years.
From 2 to 18 years.
From 3 to 18 years.
*From 3 to 65 years.
From 2 to 45 years.
The differential diagnostics of MERFF syndrome is made with such diseases:
Dentorubropallidoliusy atrophy.
Goshe’s disease.
Galaktosialidosis of the 2 type.
Myoclonus syndrome with kidney insufficiency.
*With all mentioned above.
The MELAS syndrome means:
Mitochondrial еncephalopathy, alkalosis.
Lacto-acidosis, strokes, anorexia.
*Mitochondrial encephalopathy, lactoacidosis, stroke-like episodes.
Myalgia, ataxia
Disorder of consciousness, myalgia, alkalosis, focal neurological symptoms.
The first clinical manifestations of MELAS syndrome appear in the age of:
2-5 years.
3-8 years.
4-9 years.
*6-10 years.
7-14 years.
Initial clinical symptoms in patients with the MELAS syndrome are:
*Cramps.
Comatose states.
Muscleache.
Neurological symptoms.
Fever.
The initial clinical symptoms in patients with the MELAS syndrome are:
*Recurrent headache.
Comatose states.
Muscle pain.
Neurological symptoms.
Fever.
217
A
B
C
D
E
218
A
B
C
D
E
219
A
B
C
D
E
220
A
B
C
D
E
221
A
B
C
D
E
222
A
B
C
D
E
223
A
B
C
D
E
224
A
B
C
D
E
225
A
B
The initial clinical symptoms in patients with the MELAS syndrome are:
*Vomiting.
Comatose states.
Muscle pain.
Neurological symptoms.
Fever.
The initial clinical symptoms in patients with the MELAS syndrome are:
*Anorexia.
Comatose states.
Muscle pain.
Neurological symptoms.
Fever.
The course of disease at MELAS syndrome is:
Acute.
Chronic.
Recurrent.
Subacute.
*Progressive.
The Kerns-Seir syndrome shows up as:
Pigmented retinitis, glaucoma.
External ophthalmoplegia, heart block.
Full heart block, retinitis, glaucoma, myopathic syndrome.
*Pigmented retinitis, external ophthalmoplegia, complete heart block.
Full heart block, glaucoma.
The Kerns-Seir syndrome is passed in a following way:
From mother to daughters.
From mother to the sons.
*From mother to all of children.
Paternal type.
Mendel’s character of inheritance.
The Kerns-Seir syndrome shows up at the age of:
2-10 years.
3-11 years.
4-12 years.
4-16 years.
*4-18 years.
The level of albumen in a spinal fluid at the Kerns-Seir syndrome:
Within the normal limits.
Decreased.
*Increased.
Depends on severity of the process.
Depends on duration of syndrome.
The course of disease at the Kerns-Seir syndrome is:
*Progressive.
Acute.
Subacute
Chronic.
Protracted.
The following blockade is present at the Kerns-Seir syndrome:
Full blockade of the right branch of His’ bundle.
Full blockade of the left branch of His’ bundle.
C *Atrio-ventricular blockade of heart.
D Incomplete blockade of His’ bundle.
E Ventricular blockade.
226 The most informing source for the exposure of mitochondrial mutations is:
A Skin.
B Mucous membranes.
C *Muscles.
D Blood.
E Spinal cord.
227 Age of manifestation of the MELAS syndrome:
A Before 20 years.
B Before 30 years.
C *Before 40 years.
D Before 50.
E Before 60.
228 At the MELAS syndrome the headache is:
A Permanent.
B Expressed.
C Moderate.
D *Migraine-like.
E Paroxysmal.
229 Differential diagnostics of MELAS syndrome is made with the following diseases
A Ley’s syndrome.
B Organic acidaemias.
C Homocystinuria.
D Fabri’s syndrom.
E *All mentioned above.
230 The following diet is prescribed at the Kerns-Seir syndrom:
A *Low carbohydrate.
B Low protein.
C Hypoallergic.
D Low fat.
E Low vitamin.
231 Refractory sideroblastic anemia with vacuolization of cells of bone marrow and exocrine disfunction
of pancreas is known under the name of the following syndrome:
A Kerns-Seir’s.
B *Pirson’s.
C MERRF.
D MELAS.
E Leber’s.
232 Pigmented retinitis, progressive external ophthalmoplegia, complete heart block are known as a
following syndrome:
A *Kerns-Seir’s.
B Pirson’s.
C MERRF.
D MELAS.
E Leber’s.
233 Mitochondrial encephalopathy, lacto acidosis, stroke-like episodes are the manifestation of the
following syndrome:
A Kerns-Seir’s.
B Pirson’s.
C MERRF.
D *MELAS.
E Leber’s.
234 Myoclonus-epilepsy is known under the name of the following syndrome:
A Kerns-Seir’s.
B Pirson’s.
C *MERRF.
D MELAS.
E Leber’s.
235 What phenotypic transformation of Pirson’s syndrome is possible:
A *Kerns-Seir.
B Pirson’s.
C MERRF.
D MELAS.
E Leber’s.
236 What is not useded for the treatment of mitochondrial disease :
A Thiamine.
B Tocopherol.
C *Prednisolone.
D Riboflavin.
E Lipoic acid.
237 Which one belongs to the indirect methods of prenatal diagnostics?
A *Clinical examination.
B Ultrasound.
C ЕКG.
D X-ray.
E Fetoscopy.
238 Which one belongs to the indirect methods of prenatal diagnostics?
A *Microbiological examination.
B Ultrasound.
C ЕКG.
D X-ray.
E Fetoscopy.
239 Which one belongs to the indirect methods of prenatal diagnostics?
A Ultrasound.
B *Medical genetic research.
C ЕCG.
D X-ray.
E Fetoscopy.
240 Which one belongs to the indirect methods of prenatal diagnostics?
A ЕCG.
B Ultrasound.
C *Analysis of specific embryonic albumens.
D X-ray.
E Fetoscopy.
241 Which one belongs to the indirect methods of prenatal diagnostics?
A ЕCG.
B Ultrasound.
C *Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
D X-ray.
E Fetoscopy.
242 Which one belongs to the direct methods of prenatal diagnostics?
A
B
C
D
E
243
A
B
C
D
E
244
A
B
C
D
E
245
A
B
C
D
E
246
A
B
C
D
E
247
A
B
C
D
E
248
A
B
C
D
E
249
A
B
C
D
E
250
A
B
C
D
Obstetric gynecologic examination.
*Ultrasound.
Medical-genetic research.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
Clinical examination.
Which one belongs to the direct methods of prenatal diagnostics?
Obstetric gynecologic examination.
ЕCG.
Medical-genetic research.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
Clinical examination.
Which one belongs to the direct methods of prenatal diagnostics?
Obstetric gynecologic examination.
*X-ray.
Medical-genetic research.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
Clinical examination.
Chorion biopsy is performed at the following trimester of pregnancy:
*I.
II.
I and II.
III.
II or III.
Placenta biopsy is performed at the following trimester of pregnancy:
I.
*II.
I and II.
III.
II or III.
Early amniocentesis is performed at the following gestational term:
10-11 weeks.
11-12 weeks.
12-13 weeks.
*13-14 weeks.
14-15 weeks.
Regular аmniocentesis is performed at the following gestational term:
10-15 weeks.
*15-22 weeks.
16-25 weeks.
22-25 weeks.
25-30 weeks.
Prenatal research is performed in the following number of stages:
1.
2.
*3.
4.
5.
The first stage of prenatal research includes:
Triple test.
*Combined test.
Cord centesis
Amniocentesis.
E Doppler ultrasound.
251 The first stage of prenatal research includes:
A Triple test.
B *Ultrasound.
C Cord centesis
D Amniocentesis.
E Dopler ultrasound.
252 The second stage of the prenatal research includes:
A Triple, combined tests.
B Combined test, amniocentesis, cord centesis.
C Ultrasound, amniocentesis, EKG.
D Amniocentesis, ultrasound.
E *Triple test, ultrasound, amniocentesis, cord centesis.
253 The third stage of prenatal research includes:
A Triple test and ultrasound.
B Combined test.
C Cord centesis and ultrasound.
D Amniocentesis.
E *Ultrasound and Dopler ultrasound.
254 The determination of level of alpha-fetoprotein enables to assume the presence of innate defects of:
A *Neuronal tube.
B Heart.
C Bones.
D Kidneys.
E Chest wall.
255 The determination of level of alpha-fetoprotein enables to assume the presence of innate defects:
A *Abdomen wall
B Heart.
C Bones.
D Kidneys
E Chest wall.
256 -fetoprotein is secreted antenatally in:
A Kidneys.
B Pancreas.
C *Liver.
D Spleen.
E Gonads.
257 The optimum term for the research of alpha-fetoprotein is:
A 10-15 weeks.
B 15-18 weeks.
C *16-20 weeks.
D 20-24 weeks.
E 25-30 weeks.
258 The content of alpha-fetoprotein at normal conditions depends on the following:
A Term of pregnancy.
B Laboratory.
C Geography area.
D Race of a human.
E *All mentioned above.
259 The content of alpha-fetoprotein at presence of innate defects of neurotubule:
A Normal.
B Decreased.
C *Increased.
D Depends on the term of pregnancy.
E Depends on the defect of development.
260 The content of alpha-fetoprotein at the Down’s syndrome is:
A Normal.
B *Decreased.
C Significantly increased.
D Depends on the term of pregnancy.
E Slightly increased.
261 Ultrasonic screening is especially effective for the diagnostics of:
A Innate defects of heart.
B Defects of visceral cranium.
C Defects of distal parts of extremities.
D *Innate defects of the central nervous system.
E Chromosome pathologies.
262 Ultrasonic screening is especially effective for diagnostics of:
A Innate defects of heart.
B Defects visceral cranium.
C Defects of distal parts of extremities.
D *Plural innate teratosis.
E Chromosome pathologies.
263 The main difficulties at the ultrasonic screening arise during authentication of:
A *Isolated defects of heart.
B Innate defects of central nervous system.
C Plural defects of development.
D Innate defects of the central and peripheral nervous system.
E All mentioned above.
264 The choice of invasive method depends on the followings factors:
A Gestational term.
B Indications to its use.
C Instrumental equipment of the center of prenatal diagnostics.
D Experience of doctor.
E All is mentioned above*.
265 An indication to the invasive method of prenatal diagnostics is:
A Age of the pregnant woman is 37 years and more.*
B Inflammatory disease with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E All mentioned above.
266 An indication to the invasive method of prenatal diagnostics is:
A Uterine operations in anamnesis.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E *A birth of a child with chromosomal pathology in a family.
267 An indication to the invasive method of prenatal diagnostics is:
A *Translocation of chromosomes in one of parents.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E All mentioned above.
268 An indication to the invasive method of prenatal diagnostics is:
A
B
C
D
E
*Chromosomal inversions in one of the parents.
Inflammatory diseases with the increase of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
All mentioned above.
269 An indication to the invasive method of prenatal diagnostics is:
A All mentioned.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E *Sex-linked disease.
270 An indication to the invasive method of prenatal diagnostics is:
A *Birth in a family of a few children with innate teratosises.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E All mentioned.
271 An indication to the invasive method of prenatal diagnostics is:
A All mentioned.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E *Autosomal recessive diseases.
272 An indication to the invasive method of prenatal diagnostics is:
A *Suspicion on innate or inherited pathology of fetus during ultrasound examination.
B Inflammatory diseases with the rise of temperature.
C Threatened abortion with bleeding.
D Numerous laparotomies in anamnesis.
E All mentioned above.
273 The program of mass screening of new-born consists of … stages:
A 1.
B 2.
C 3.
D 4.
E *5.
274 Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory
belongs to the … stage of the program of mass screening of new-born:
A *1.
B 2.
C 3.
D 4.
E 5.
275 Laboratory screening diagnostics belongs to the following stage of the mass screening program of
new-born:
A 1.
B *2.
C 3.
D 4.
E 5.
276 Clarification diagnostics of all cases with positive results got at screening belongs to the … stage of
the program of mass screening of new-born:
A
B
C
D
E
1.
2.
*3.
4.
5.
277 Treatment of patients and regular medical check-up with the control of the course of treatment
belongs to the … stage of program of mass screening of new-born:
A 1.
B 2.
C 3.
D *4.
E 5.
278 Меdical genetic consulting of family belongs to the … stage of mass screening of new-born:
A 1.
B 2.
C 3.
D 4.
E *5.
279 At mitochondrial diseases most often are affected:
A *Brain
B Kidneys.
C Hypothalamus.
D Thyroid gland.
E Pancreas.
280 A biopsy of what organ serves for morphological research in case of mitochondrial pathology?
A Skin.
B *Muscles.
C Kidneys.
D Liver.
E Brain
281
The “Lacerated red fibres” syndrome carries the name of :
A Leber’s.
B Kerns-Seir’s.
C Pirson’s.
D *MERRF
E MELAS.
282 The course of disease at the MERFF syndrome is:
A Acute.
B Recurrent.
C Chronic.
D *Progressive
E Protracted.
283 The differential diagnostics of MERFF syndrome is made with such diseases:
A Dentorubropallidoliusy atrophy.
B Goshe’s disease.
C Galaktosialidosis of the 2 type.
D Myoclonus syndrome with kidney insufficiency.
E *With all mentioned above
284 The MELAS syndrome means:
A Mitochondrial еncephalopathy, alkalosis.
B Lacto-acidosis, strokes, anorexia.
C *Mitochondrial encephalopathy, lactoacidosis, stroke-like episodes
D Myalgia, ataxia
E Disorder of consciousness, myalgia, alkalosis, focal neurological symptoms.
285 The Kearns-Sayre syndrome shows up as:
A Pigmented retinitis, glaucoma.
B External ophthalmoplegia, heart block.
C Full heart block, retinitis, glaucoma, myopathic syndrome.
D *Pigmented retinitis, external ophthalmoplegia, complete heart block
E Full heart block, glaucoma.
286 One of the important symptoms of mitochondrial pathology is:
A Fever
B Intercurrent infections.
C *Intolerance to the physical activity
D Dementia.
E Hyperelastisity of skin
287 What is not used for the treatment of mitochondrial disease :
A Thiamine.
B Tocopherol.
C *Prednisolone
D Riboflavin.
E Lipoic acid.
288 Which one dose belong to the indirect methods of prenatal diagnostics?
A *Ultrasound
B Medical genetic counseling.
C ЕCG.
D X-ray.
E chorion biopsy.
289 Which one belongs to the indirect methods of prenatal diagnostics?
A ЕCG.
B Ultrasound.
C *Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant
D X-ray.
E Fetoscopy.
290 What does belong to the direct methods of prenatal diagnostics?
A Obstetric gynecologic examination.
B Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
C Medical-genetic counseling.
D *Ultrasound
E Clinical examination
291 Chorion biopsy is performed at the following trimester of pregnancy:
A *I
B II
C I and II
D III
E II or III
292 Placenta biopsy is performed at the following trimester of pregnancy:
A I
B *II
C I and II.
D III.
E II or III
293 Early amniocentesis is performed at the following gestational term:
A 10-11 weeks.
B 11-12 weeks.
C 12-13 weeks.
D *13-14 weeks
E 14-15 weeks
294 The first stage of prenatal research includes:
A Triple test.
B *Ultrasound
C Cord centesis
D Amniocentesis.
E Doppler ultrasound.
295 The first stage of prenatal research is performed at the following term of pregnancy:
A *The first 10 weeks
B 15-22 weeks.
C 16-25 weeks.
D 5-10 weeks.
E 25-30 weeks.
296 The second stage of prenatal research is performed at the following term of pregnancy:
A The first 10 weeks.
B 10-15 weeks.
C *16-20 weeks
D 20-25 weeks.
E 25-30 weeks.
297 The third stage of prenatal research is performed at the following term of pregnancy:
A The first 10 weeks.
B 15-22 weeks.
C 16-25 weeks.
D 25-30 weeks.
E *32-36 weeks
298 Ultrasonic screening is especially effective for the diagnostics of:
A Innate defects of heart.
B Defects of visceral cranium.
C Defects of distal parts of extremities.
D *Innate defects of the central nervous system
E Chromosome pathologies.
299 The main difficulties at the ultrasonic screening arise during authentication of:
A *Isolated defects of heart
B Innate defects of central nervous system.
C Plural defects of development.
D Innate defects of the central and peripheral nervous system.
E All mentioned above.
300 Screening for phenylketonuria is performed on the following day of life of a child:
A 1-2.
B 2-3.
C 3-4.
D *3-5
E 2-4.
301 The first stage of the program of mass screening of new-born includes:
A *Treatment of sick and regular medical check-up with the control of the course of treatment.
B Laboratory screening diagnostics.
C Clarification diagnostics of all cases with positive results got during the screening.
D Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory
E Medical genetic consulting of a family.
302 The second stage of the program of mass screening of new-born includes:
A Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory.
B
C
D
E
303
A
B
C
D
E
304
A
B
C
D
E
305
A
B
C
D
E
306
A
B
C
D
E
307
A
B
C
D
E
*Laboratory screening diagnostics
Clarification diagnostics of all cases with positive results got at screening.
Treatment of sick and regular medical check-up with control of the course of treatment.
Medical genetic consulting of family.
The third stage of the program of screening of new-born includes
Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory.
Laboratory screening diagnostics.
*Clarification diagnostics of all cases with positive results got at screening
Treatment of sick and regular medical check-up with control of the course of treatment.
Мedical genetic consulting of family
The fourth stage of the program of mass screening of new-born includes:
Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory.
Laboratory screening diagnostics.
Clarification diagnostics of all cases with positive results got at screening.
*Treatment of sick and regular medical check-up with control of the course of treatment
Мedical genetic consulting of family
The fifth stage of the program of mass screening of new-born includes:
Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory.
Laboratory screening diagnostics.
Clarification diagnostics of all cases with positive results got at screening.
Treatment of sick and regular medical check-up with control of the course of treatment.
*Мedical genetic consulting of the family
Diagnostics at the level of one or a few cells is performed with the use of the following methods:
Polymerase chain reaction.
Monoclonic antibodies.
Ultramicroanalitic methods.
Monoclonal antibodies and polymerase chain reaction.
*All mentioned above
Cells that are used for chromosomal analysis:
Amniotic liquid cells.
Chorion cells.
Placenta cells.
Lymphocytes of umbilical cord blood of a fetus.
*All mentioned above
Situation tasks
1
2
The doctor, inspecting the child of 12 years old with cystic fidrosis, was asking by the parents about risk
for the relatives to get the similar diseases. What method of medical genetics will use the doctor?
A statistical
B *genealogical
C biochemical
D Citogenetical
E Dermatoglifical
Genetics has examined 6 years old boy with complaints of psychomotor development retardation. In
phenotype: a microbrachicephalia, flat face, mongoloid eyes, epicant, flat occiput, low line of hair growth
on the neck, short neck, mental development delay. The karyotype 47ХУ+21. What disease has the
child?
A Patau syndrome
B Edwards syndrome
C Turner syndrome
D Klinefelter syndrome
3
4
5
6
7
8
9
E *Down syndrome
The 14 years old boy is directed to a hospital with a sexual development delay. In phenotype:
gynecomastia, hypogenitalism, there are no secondary sexual sings, high growth. In the anamnesis –
operation in cryptorchism. What is the tentative diagnosis?
A hypohonadism
B *Klainfelter syndrome
C Marfan syndrome
D delay of a sexual development
E a mastopathy
The girl 15 years old has complains of a growth delay, absence of menses and secondary sexual
symptoms. In phenotype: the hight is 152 cm, broad neck, low line of hair growth on the neck, shoulders
dominate above pelvis, breasts are not developed, hair is absent on a pubis, hypoplasia of the uterus.
What is the tentative diagnosis?
A Patau syndrome
B Edwards syndrome
C *Turner syndrome
D Klinefelter syndrome
E Down syndrome
The 5 years old boy often suffers from bronchitis and pneumonias. At bronchological investigation
bronchiectasis were detected. Besides this the child suffers of chronic sinusitis and dextracardia. What is
the most probable diagnosis?
A syndrome of Аersa
B * Cartagener syndrome
C Villiams- Cambell Syndrome
D Hamen- Rich syndrome
E Cystic fibrosis
The 15-days old infant was hospitalized to clinic. At the examination the microcephalia, hypotelorism,
cleft upper lip, polydactyly, microoftalmia were observed. The trisomy of 13-th chromosome was
detected by karyotyping. What is the clinical diagnosis?
A *Patau syndrome
B Edwards syndrome
C Turner syndrome
D Klinefelter syndrome
E Down syndrome
The 15-days old infant was hospitalized to clinic. At the inspection the narrow forehead, micrognatia,
cleft palate, multiple deformations of hands and arms, dolihocephalia. The trisomy of 18-th chromosome
was detected by karyotyping. What is the clinical diagnosis?
A Patau syndrome
B *Edward syndrome
C Turner syndrome
D Klinefelter syndrome
E Down syndrome
The 2 month old child is hospitalized with complaints on regurgitation, periodic vomiting, liquid frequent
foamy stool, with an acid smell. These symptoms are observed from the first days of life. At assessment:
a child is pale, mass deficit is 20%. What laboratory research is helpfull for diagnosis?
A stool analysis
B Bacteriological [microbial] analysis of excrements
C *Lactose tolerance test
D Clinical blood test
E Clinical urinalysis
A screening test on phenylketonuria was done to a 5-day old child in maternity hospital. The result is
positive. What treatment does the child need for the prophylaxis of serious complications in the future?
A Antibiotic therapy
10
11
12
13
14
15
B Vitamins
C *Diet therapy
D Physiotherapy
E Hormone therapy
A 6-month old child is hospitalized with complaints on fatigue, anorexia, body mass deficit, changeable
stool. The onset of disease is attributed to introduction of wheat in the ration. At assessment:
malnutrition (mass deficit is 18%), a skin is dry, the turgor of tissues is decreased, an abdomen is inlarge,
tympanic. Stool is massive, foamy, colourless, with fat glance, with a stinking odor. What is the most
reliable reason of malabsorption syndrome in a child?
A Lactose intolerance
B Galactose intolerance
C *Gluten intolerance
D Starch intolerance
E Lipid intolerance
The diagnosis of phenylketonuria in a new-born child after five days of life could possibly be confirmed
by the following examination:
A Testing protein level in blood
B Apt’s test
C *Gatri’s test
D Testing chlorides level in sweat
E Sulkovich’s test
A 7-month old child was hospitalized with complaints on lag in physical development, fatigue, periodic
vomiting. A mother considers the girl to be ill for about 2 months. At assessment: a child is languid, has
wandering look, irresponsive on the direct speech, does not babble, does not sit independently. There are
dermatitis, light hair, blue eyes, a specific "mouse" smell from a child. What is the preclinical diagnosis?
A Down syndrome
B *Phenylketonuria
C Innate hypothyroidism
D Celiac disease
E Infantile cerebral palsy
The 1,5-year old child with the complaints to diarrhea is hospitalised. She is ill from 7-8 months;
beginning of disease connects to the introducing in a ration of plants and bread. Was diagnosed Gee's
disease. What product is possible to give to child?
A Oat
B Cooked semolina
C *Corn rods
D Wheaten porridge
E Barley porridge
The boy of 7 year old with asthenic body build, growth- 140 sm, deficit of weight 22 %, hypermobility of
joints, deformation of a sternum, muscles hypotonia; length of a long finger the greater then 10 sm., span
of arms is greater then lengths of a body; anomalies of a cardiovascular system (aortic aneurysm, mitral
valve prolaps); dermal changes (stretching, dryness, pale of a skin, longitudinal and cross-sectional white
lines). What is the preclinical diagnosis?
A Edward Syndrome
B *Marfan Syndrome
C Ehlers-Danlos Syndrome
D Patau Syndrome
E Klinefelter Syndrome
The 7 years old child suffers from diarrhea, meteorism, disturbing in bowels after milk nutrition. At
realization of the lactosetoleranse test with lactose the flat sugar curve is detected. What is the clinical
diagnosis?
A Acute intestinal diseases
B Gee's disease
16
17
18
19
20
21
C *alactasia
D esophagus ahalazia
E Galactosemia
The child 1,5 months old was born from the І physiological pregnancy with weight 3700 g. After the
discharging from a maternity hospital regurgitation began after each feeding, periodical vommiting,
weight defficit. Abdomen is inlarge, stool is frequent, with an acid odor. What disease can be suspected
first of all?
A Pylorospasm
B Pylorostenosis
C esophagus ahalazia
D *Аlactasia
E Intestinal infection contamination
The 7-month's old child with the lag in physical development, rapid fatigability, periodic vomiting is
hospitalized. The girl is ill 2 months. At the assesment: the child flabby, does not fix a look, does not
speak, does not sit independently, does not react on speech, tongue is big, sign of dermatitis, hair is light,
eyes are blue, there is a spesific "mouse" odor from the child. What is the preclinical diagnosis?
A Down syndrome
B *Phenilketonyria
C Gee's disease
D Heridatary hypothiriosis
E cerebral palsy
The child of 1 year old with the complaints of diarrhea is hospitalised. The illness began in 2-3 weeks
after the introducing porridge in a ration. At the view: the child acyanotic, deficite of weight 30 %,
abdomen is large, extremitis are thin. What is the preclinical diagnosis?
A Аlactasia
B Galactosemia
C *Gee's disease
D Dysentery
E Malnutrition
The 4-month's old child with the complain on often with an acidic odor feces from the first days of life is
hospitalized. At the inspection: the child cyanotic, deficit of weight 22 %. By results of examinations:
bacteriological culture of a feces negative, equal glycemia after loading by a lactose 4,4 - 4,6 - 4,4
mmol/l. What is the preclinical diagnosis?
A *Аlactasia
B Cystic fibrosis
C Galactosemia
D Intestinal infection contamination
E Gee's disease
The doctor inspects the child, which one is sick on Diabetes mellitus. He gives the indispensable
guidelines to the parents concerning further overseeing by the child and concerning planning of future
children. What stage of genetic consultation does the doctor make?
A I
B ІІ
C *ІІІ
D IV
E V
What specialist except the doctor - genetics, citogenetics and biochemist - genetics should be present in a
structure of the genetic consulting?
A pediatrician
B *obstetrician
C neonatologist
D Neurologist
E Oculist
22 In a family were grandmother suffers from Diabetes mellitus the healthy full-term child was born. The
child grows and develops well. Main in the guideline to the parents from geneticist should be:
A Constant control for kept in repair glucoses in a urine
B *Limitation of carbohydrates and fats in a ration of the child
C Control behind weight of a body of the child
D Monthly definition of a tolerance to carbohydrates
E Exception sweet of a ration of the child
23 At collecting of data of genetic anamnesis in family, where the child with Dawn syndrome was born it is
necessary to pay attention to:
A Peculiarities of feeding of the child
B Availability of treatment of the mother during pregnancy
C Age of all members of the family
D Feed condition of the pregnant woman
E * bad habits and conditions of work of pregnant woman
24 On doctor - geneticist reception the pregnant woman troubles about the handicapped child birth. The
possible advice of the doctor will be:
A Waiving birth of the child
B *Prenatal diagnostic
C examination of the husband
D Abortion
E To provide the psychotherapy of the pregnant woman
25 The doctor - geneticist, having consulted the neonatal child with series of dysmorphic signs. What stage
of genetic consultation should be provided:
A Oral advice to the parents
B Conclusion and conforming guidelines
C *specify diagnosis
D Definition of risk of repeated diseases
E Treatment of the detected deviations
26 The family with the generically burdened anamnesis has addressed to genetic consulting for the
guidelines concerning birth of the child. It is known, that 4 precursor pregnancies were finished by
abortions in early terms. Which guideline of the doctor - geneticist will be the most adequate?
A To conduct artificial fertilization
B *Careful prenatal diagnostic in following pregnancy
C Waiving birth of the following child
D Realization of preventive treatment the woman
E Care of the following pregnancy
27 The 36 years old woman is taking medical advice of doctor – geneticist. Being in a late marriage she
gave birth to child with the Down syndrome. Woman is interested whether it is possible to prevent the
birth of the child with a genetic pathology. Which one will be the guideline of the doctor?
A To refuse conceiving of the following child
B To perform analysis of alpha – fetoproteins on 6-10 of weeks of pregnancy
C * To perform amniocentesis on 12-14 weeks of pregnancy
D To determine a karyotype of both parents and child
E To apply preventive treatment of the woman with the folic acid
28 At examination of the 5 months old child in genetic consulting were clarified, that by the cause of an
inheritable pathology a constant aberation chromosome, which one was accompanied by turn of a part of
chromosome on 1800 How this aberration is called?
A Delation
B Duplication
C Transversion
D translocation
E *Inverse
29 At examination of the child of 2 days old in genetic consulting were clarified, that by the cause of an
30
31
32
33
34
35
inheritable pathology a constant aberation chromosome, which one was accompanied by moving of a part
of chromosome on the other chromosome. How such aberration is called?
A Delation
B Duplication
C Transversion
D *translocation
E Inverse
In the study of patient’s karyotype 46 chromosomes were found. One of the 15 th chromosome was
longer than usual as a result of acceding to the section of chromosome 21-th pair. What is a mutation
occurs in girl?
A Invert.
B Deletion.
C *Translocation.
D Doubling.
E Duplication.
In the cytogenetic laboratory investigated the karyotype of a healthy child. It was found that his somatic
cells contain 46 chromosomes. How many autosomes contained in his somatic cells?
A 23.
B 22.
C *44.
D 46.
E 92.
The doctor, inspecting the child of 12 years old with cystic fibrosis, was asking by the parents about
availability for the relatives of similar diseases. What method of medical genetics will use the doctor?
A statistical
B *genealogical
C biochemical
D Citogenetical
E Dermatoglifical
The six-month boy suffers from unproductive tussis, disturbing, poor appetite, dyspnea. According to
mother explanation the child was born with 3200 g of body weight, twice was treated with pneumonia.
Now deficit of mass is 18 %, skin is cyanotic, the dyspnea, breath-48/min., in mild hard breathing with
rhonchus, left-hand border of heart on forward axially line, systolic murmur in V point, is conducted in
scapular segment, pulse - 148/min. Accent ІІ of tone above pulmonary artery. What diagnosis is possible
to suspect?
A *Congenital heart diseases with reset of blood on the left right
B Cystic fibrosis
C Bronchiolitis
D Hereditary carditis
E Acute pneumonia
The boy of 3 months has poor increase in mass at satisfactory appetite, periodic cyanosis of the child
during feeding, the changes on the part of heart are auscultated from birth, deficit of weight 15 %,
paleness and xeroderma; art – rough systolic murmur in all points, it is maximum in ІІІ left intercostal
space to the left. What diagnosis is possible to suspect?
A atrial septal defect
B tetralogy of Fallot
C *Ventricular septal defect
D pulmonary stenosis
E Coarctation of the aorta
The neonatal boy, was born with weight 3,100 from І normal pregnancy, which one flowed past with
gessoes during the first trimester, has cried at once; rough systolic noise in ІІ intercostal to the left of a
36
37
38
39
40
41
breast bone, skin pink, clean. What diagnosis is possible to suspect?
A *Patent Ductus Arteriosus
B Ventricular septal defect
C atrial septal defect
D Coarctation of the aorta
E pulmonary stenosis
The 6 mo old child has the bronchoobstructive syndrome, lag in physical development. On taste a skin is
saline from birthday. Make the diagnosis.
A syndrome Mynje-Kunа
B *Cystic fibrosis
C syndrome Cartagener
D Syndrome of Villiams- Cambell
E a primary pulmonary hypertension
Boy of 7 mo. was entered to a hospital with malnutrition and diarrhea. Was born with weight 3100 g.
From 3 mon. – on artificial feeding by the cow milk. Weight is 4900 g, skin dry, the muscle tone is
reduced, loose consistency, green colour feces with smelly odour. In coprogramma there is neutral fatty
feces. What disease can be suspected?
A Celiac diseases
B *Cystic fibrosis
C Dysbacteriosis
D Intestinal infection
E Alactasia
A3 mo child had severe bronchoobstructive syndrome without precursor catarral symptomes. The tussis
was with viscid sputum. A feces are greasy, with smelly odour from the first days of life. The diagnosis
of cystic fibrosis, mix form is established. What research can confirm the diagnosis?
A X-ray of a thorax.
B *definition of chlorides of sweat
C coprogram
D CT scan of lungs
E lipidogram
The boy of 5 years old often is sick of bronchites and pneumonias. At bronchological research is detected
bronchiectasis. Besides this the child suffers by chronic sinusitises, takes place dextracardia. The most
probable diagnosis?
A syndrome of Аерса
B *syndrome of Cartagener
C Syndrome of Villiams- Cambell
D syndrome of Hamen- Rich
E Cystic fibrosis
The 6 years old boy has tussis with a blood, dyspnea in a state of rest. Lag in physical development.
Objective: a deficit of weight 25 %, skin pale cyanotic. The musculation of chest takes part in the act of
breathing, clubbing fingers. During auscultation o lot of wet rales can be heard, the respiratory rate is 34
per minute. In comparative percussing of chest tympanic sound is heard. Cardiac sounds reinforced,
accent ІІ tone above pulmonary artery. X-ray: on all area of lungs on a considerable strengthening and
deformation of a pulmonary figure – large quantity of small-sized shades. What disease can be
suspected?
A *a primary pulmonary hypertension
B Syndrome of Villiams- Cambell
C an acute pneumonia
D Syndrome of Cartagener
E Left ventricular failure
The boy of 14 years is directed to a hospital in connection of lag of a sexual development. In phenotype:
gynecomastia, hypogenitalism, there are no secondary sexual signs, high growth. In an anamnesis –
operation concerning a cryptorchism. What disease can be suspected?
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A hypogonadism
B *Klainfelter syndrome
C Marfan syndrome
D delay of a sexual development
E a mastopathy
To genetics is examine the 6 year old boy with lag of psychomotor development. In phenotype: a
microbrachicephalia, flat face, mongoloid eyes, epicant, flat occiput, a low line of growth of a hair on a
neck, short neck, delay of mental development. The karyotype 47ХУ+21. What disease can be
suspected?
A *Down syndrome
B Heridatary hypotireos
C a syndrome Klainfelter
D phenilketonuria
E Patay syndrome
The girl 15 years has complains of a growth inhibition, absence of mensis and secondary sexual signs. In
phenotype: the growth 152 cm, broad neck, low line of hair on necks, shoulder girdle dominates above
pelvic, mamma not developed, missing hair on a pubis, hypoplasia of a uterus. What disease can be
suspected?
A Nanism
B *Turner syndrome
C hypogenitalism
D an amenorrhea
E Neurofibromatosis
The neonatal child was hospitalized in clinic. At the review the microcephalia, hypotelorism, cleft of
upper lip, polydactylia, microophtalmia were observed. The trisomy of 13-th chromosome is detected at
examination. What is the disease?
A Down syndrome
B Edwards syndrome
C *Patau syndrome
D Klainfelter syndrome
E Turner syndrome
The girl of 15 days was hospitalized to the children's department. At the external view the narrow
forehead, micrognatia, cleft palate, multiple deformations of arms, autopodium "pump plunger",
dolihocefalia were observad. At examination the trisomy of 18-th chromosome is detected. What is the
disease?
A Down syndrome
B *Edward syndrome
C Patau syndrome
D Klainfelter syndrome
E Turner syndrome
The girl of 13 years was hospitalized to the children's department. The parents are disturbed by leg of the
child in physical and sexual development. At the view: growth 130 sm, disproportional body build, short
neck, with dermal marks, misses secondary sexual signs. Intellect is not reduced. It can be Turner
syndrome . What karyotype of this pathology?
A 47ХХХ
B *46ХХ
C 45Х0
D 45ХУ
E 47ХХУ
The child of 8 months was hospitalized to the clinic. At the view: the expressed hypomyotonia (does not
sit and stand on legs), mongoloid eyes, broad bridge of the nose. At auscultation of heart - rough systolic
with maximum in 4 intercostal space to the left of a sternum. Down syndrome was suspected. What
pathogenesis of this illness?
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A trisomy of 13-th pair chromosome
B trisomy of 18-th pair chromosome
C trisomy of 19-th pair chromosome
D *trisomy of 21 pair chromosome
E trisomy of 22 pair chromosome
Assign treatments to the child: the girl 8 years old with Turner syndrome .
A antibiotics
B Hormones
C *female sexual hormons
D Citostatics
E operating treatment
The girl of 6 days, was born from І pregnancy, І delivary in 38 weeks. Weight at birth 2800 g, growth
48 sm. From birth was marked considerable lymphatic edema of arms and legs, which one independently
has passed in the first day. Your tactics of management of the child?
A to make out home
B *to route to genetics
C to route to the surgeon
D to route to the endocrinologist
E to route to the vascular surgeon
The boy of 13 years at examination in medicogenetic center was put diagnose – Klainfelter syndrome .
Assign symptomatic treatment.
A estrogens
B antibiotics
C *androgens
D Anabolic hormons
E Citostatics
A mother decided to see a doctor with a 7-years-old boy for making diagnosis. Data of assessment:
asthenic constitution, height of 140 sm, body weight deficit is 22%, hypermobility of joints, muscle
hypotonia, long "spiderlike" fingers (length of middle fingers on hands is 12 sm), overdistended and dry
skins. Level of mental development is normal. What diagnosis is the most possible?
A Klinefelter syndrome
B Edward syndrome
C *Marfan syndrome
D Elers-Danlos syndrom
E Patau syndrome
In the anamnesis of a 4-year-old girl there are recurrent pneumonias with signs of obstruction. There are
heterogeneous moist and dry rales, respiration is weakened. Dense, viscous secretion is difficult to hawk.
There are clubbing fingers, physical retardation. What is the most probable diagnosis?
A *Cystic fibrosis, pulmonary form
B Pulmonary tuberculosis
C Bronchial asthma
D Recidivating bronchitis
E Congenital pulmonary polycystosis
A 5-year-old child with stigmas of dysembryogenesis (small chin, thick lips, opened mouth,
hyperthelorismus) has systolic murmur in the second intercostal to the right of the sternum. The murmur
passes to the neck and along the sternum left edge. The pulse on the left brachi_al artery is weakened. BP
on the right arm is 110/60 mm Hg, on the left -100/60 mm Hg. ECG results: hypertrophy of the right
ventricle. What defect is the most probable?
A atrial septal defect
B *aortic stenosis
C ventricular septal defect
D pulmonary stenosis
E Coarctation of the aorta
54 A 4-day-old girl was born from a second desired gestation, second delivery on the 39 week term. On
physical exam: characters of the pre-natal retardation, aliform folds on the neck, lymphatic edema of
hands and feet that disappeared without treatment during first 24 hours. What is your assessment of the
child?
A *Turner syndrome
B Healthy child
C Sclerema
D Immature lymphatic system
E Congenital hypothyreosis
55 A newborn girl has congenital lymphedema of the hands and feet, short neck with loose skin,
antimongoloid slant of palpebral fissures, epicantus folds. In epithelial cells of buccal scrape Xchromatin (Barr body) is absent. What is the most likely diagnosis?
A *Turner syndrome
B Klinefelter syndrome
C Edwards syndrome
D Down syndrome
E Patau syndrome
56 A 1-year-old infant is observed for a lag in physical development. During the neonatal period he had an
exploratory laparotomy for intestinal obstruction. At 3,8 and 11 month of age, he had bronchitis. Physical
examination: weight of 6,8 kg, thin extremities with very little subcutaneous tissue, and a protuberant
abdomen. The essentials diagnostic study in this child is:
A *Sweat electrolytes
B Skin test for milk allergy
C Bronchoscopy
D Serum immunoglobulin level
E Tuberculin skin test
57 1-year-old child suffers of attack-like cough. The child presents with the history of dyspepsia since birth.
On physical examination there are signs of delay in physical development, bronchial obstruction,
respiratory insufficiency, 1 grade. Blood count: signs of inflammatory process. Sweat chlorides 120
mEq/L. What is the most likely diagnosis?
A *Cystic fibrosis
B Bronchopulmonary dysplasia
C Kartagener syndrome
D Acute respiratory infection, bronchitis
E Severe bronchial asthma
58 A genetics specialist analyzed the genealogy of a family and found that both males and females may have
the illness, not across all the generations, and that healthy parents may have ill children. What is the type
of illness inheritance?
A Y-linked
B *Autosomal recessive
C X-linked recessive
D Autosomal dominant
E X-linked dominant
59 In course of prophylactic medical examination a 7-year-old boy was diagnosed to have daltonism.
Parents are healthy, color vision is normal. But grandfather from the mother's side has the same disorder.
What is the type of inheriting of this anomaly?
A sex-linked recessive
B Autosomal-dominant
C *Autosomal-recessive
D Incomplete domination
E sex-linked dominant
60 A 7-day-old boy is admitted to the hospital for evaluation of vomiting and dehydration. Physical
examination is otherwise normal except for minimal hyperpigmentation of the nipples. Serum sodium
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and potassium concentrations are 120 meq/L and 9 meq/L respectively. What is the most likely
diagnosis?
A Panhypopituitarism
B *Congenital adrenal hyperplasia
C Hyperaldosteronism
D Secondary hypothyroidism
E Pyloric stenosis
A child has attached fingers of his right hand. What is your diagnosis?
A Macrodactily
B *Syndactyly
C Ectromelia
D Ectrodactyly
E Polydactily
In medical history of a 2-years-old girl: recurring pneumonias with obstructive course. Auscultation:
heterogeneous moist and dry rales in lungs, weakened breathing. Difficult excretion of thick, viscous
sputum. Observed "drumstick" fingers, mental deficiency. What is the preliminary diagnosis?
A Recurrent bronchitis
B Congenital polycystic lung disease
C *Cystic fibrosis, pulmonary form
D Pulmonary tuberculosis
E Bronchial asthma
A 2 y.o. boy was admitted to the hospital with weight loss, unstable discharges, anorexia, following the
semolina's introduction (since 5 months). The child is adymanic, flabby, pale dry skin, subcutaneous
layer is thinned. Distended and tensed abdomen, tympanitis on percussion of the upper part of the
abdomen, splashing sounds, feces are foamy, of light color, foul. On coprogram: a lot of neutral fat. What
is the cause of the disease?
A Intestinal dysbacteriosis
B cystic fibrosis
C *Celiakia (celiac disease)
D Disaccharidase insufficiency
E Chronic enteritis
A 6 y.o child complains of thirst, polyuria, and increased appetite for 2 months with weight loss for 3 kg.
There has been nocturnal enuresis during last week. On examination: hyperglycemia 14 mol/L. The
diagnosis is diabetis mellitus I type. What is the genesis of this disease?
A Viral disease
B Bacterial disease
C mitochondrial disease
D *multifactorial genetic disease
E autosomal ressesive genetic disease
A 14 years old boy is on the inpatient treatment in the infectious department with a diagnosis of the
follicular angina (acute tonsillitis).Except the clinical signs of this disease the following symptoms are
observed: large stature with the eunuch-like body proportions, narrow shoulder girdle, wide pelvis,
surplus of hypodermic basis, adult woman pattern of hair distribution on the pubis, a penis is of normal
size, intellect is considerably decreased. Diagnose the concomitant disease.
A *Klinefelter syndrome
B Obesity
C Prader-Will syndrome
D Metabolic syndrome
E delay of a sexual development
A 14 years old boy is on the inpatient treatment in the infectious department with a diagnosis of the
follicular angina (acute tonsillitis).Except the clinical signs of this disease the following symptoms are
observed: large stature with the eunuch-like body proportions, narrow shoulder girdle, wide pelvis,
surplus of hypodermic basis, adult woman pattern of hair distribution on the pubis, a penis is of normal
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size, intellect is considerably decreased. What karyotype of this pathology?
A 47ХХХ
B 46ХХ
C 45Х0
D 45ХУ
E *47ХХУ
A 14 years old boy is on the inpatient treatment in the infectious department with a diagnosis of the
follicular angina (acute tonsillitis).Except the clinical signs of this disease the following symptoms are
observed: large stature with the feminization, narrow shoulder girdle, wide pelvis, surplus of hypodermic
basis, adult woman pattern of hair distribution on the pubis, a penis is of normal size, intellect is
considerably decreased. What is the genesis of this disease?
A Bacterial disease
B mitochondrial disease
C multifactorial genetic disease
D *chromosomal diseases
E autosomal disease
A 7-year old boy does not have complains. Objective data: growth is 140 sm, 22% of deficit in weight,
asthenic disproportionate body-build. Skin covers are pale dry, stretchings, longitudinal and transversal
white lines are visualized. Hypermobility of joints, deformation of thorax, clubfoot, muscle weakness,
long spidery fingers, large spread of hands are seen. Insignificant mental lag. Ultrasound of heart:
aneurysm of aorta, mitral valve prolapse. What is your diagnosis?
A *Marfan syndrome
B Klinefelter syndrome
C Biological acceleration
D Gigantism
E Turner syndrome
7-year old boy does not have complains. Objective data: growth is 140 sm, 22% of deficit in weight,
asthenic disproportionate body-build. Skin covers are pale dry, stretchings, longitudinal and transversal
white lines are visualized. Hypermobility of joints, deformation of thorax, clubfoot, muscle weakness,
long spidery fingers, large spread of hands are seen. Insignificant mental lag. Ultrasound of heart:
aneurysm of aorta, mitral valve prolapse. What is your diagnosis? What cause of development of this
disease?
A *Monogenic disease
B Bacterial disease
C mitochondrial disease
D multifactorial genetic disease
E endocrine disease
7-month old child was hospitalized with a diagnosis of pneumonia, with which she was diagnosed for the
second time. At assessment: expressed hypomyotonia (does not sit, does not resist with legs, „frog”-like
abdomen), flat back of the head, narrow forehead, mongoloid slant, wide bridge of the nose, epicanthus,
large tongue are observed. Skin is dry, blush on cheeks, auricles are small, deformed. The fingers of
hands are short, thick. On a palm there is one transversal furrow. At auscultation – harsh systolic
murmur, maximally detected at the IV intercostals space to the left from the breastbone. Mother is 41
year old, father is 50 year old. What chromosomal pathology could be suspected in a child?
A Turner syndrome
B Klinefelter syndrome
C Edward syndrome
D *Down syndrome.
E Patau syndrome
7-month old child was hospitalized with a diagnosis of pneumonia, which was diagnosed for the second
time. At assessment: expressed hypomyotonia (does not sit, does not resist with legs, „frog”-like
abdomen), flat back of the head, narrow forehead, mongoloid slant, wide bridge of the nose, epicanthus,
large tongue are observed. Skin is dry, blush on cheeks, auricles are small, deformed. The fingers of
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hands are short, thick. On a palm there is one transversal flate. At auscultation - harsh systolic murmur,
maximally detected at the IV intercostals space to the left from the breastbone. Mother is 41 year old,
father is 50 year old. What is the main possible cause of genetic syndrom in child?
A Bacterial
B Viral
C *Age of parents
D endocrine
E immunological
The 7-month old child was hospitalized with a diagnosis of pneumonia, with which she was diagnosed
for the second time. At assessment: expressed hypomyotonia (does not sit, does not resist with legs,
„frog”-like abdomen), flat back of the head, narrow forehead, mongoloid slant, wide bridge of the nose,
epicanthus, large tongue are observed. Skin is dry, blush on cheeks, auricles are small, deformed. The
fingers of hands are short, thick. On a palm there is one transversal furrow. At auscultation – harsh
systolic murmur, maximally detected at the IV intercostals space to the left from the breastbone. Mother
is 41 year old, father is 50 year old. What pathogenesis of this illness?
A trisomy of 13-th pair chromosome
B trisomy of 18-th pair chromosome
C trisomy of 19-th pair chromosome
D *trisomy of 21 pair chromosome
E trisomy of 22 pair chromosome
The 13 years old girl was hospitalized at the pediatric department for examination. Parents are worried by
lag of child in physical and sexual development. At assessment: height is 130 sm, disproportionate body
build (the upper part of a trunk is longer than the lower part), a neck is short, with pterygoid skin folds,
valgus position of elbow joints, wide palms, a little finger is deformed, the secondary sexual signs are
absent, an intellect is not affected. Make a clinical diagnosis.
A *Turner syndrome
B Klinefelter syndrome
C Edward syndrome
D Down syndrome.
E Patau syndrome
The 13 years old girl was hospitalized at the pediatric department for examination. Parents are worried by
lag of child in physical and sexual development. At assessment: height is 130 sm, disproportionate build
(the upper part of a trunk is longer than the lower part), a neck is short, with pterygoid skin folds, valgus
position of elbow joints, wide palmss, a little finger is deformed, the secondary sexual signs are absent,
an intellect is not affected. Specify the pathogenesis of this pathology
A 47ХХХ
B 46ХХ
C *45Х0
D 45ХУ
E 47ХХУ
A child was born from the first term pregnancy, that had normal course. The child was delivered
physiologically, with the birth weight of 3200 gr., height of 50 sm, but in an asphyxia. Mother is 29 years
old. The condition of child is bad from the moment of birth: frequent cramps, attacks of apnoea. Data of
assessment: microcephaly, microphtalmia and coloboma are observed, along with the widely and low
situated eyes, cleft soft and hard palate, upper lip. Bridge of the nose is hollow, ears are deformed and
low situated, lower jaw is elongated. Plural capillary hemangiomas are seen on the skin. At auscultation:
systolic murmur at all points, embryocardia. Make the diagnosis.
A Turner syndrome
B Klinefelter syndrome
C Edwards syndrome
D Down syndrome.
E *Patau syndrome
A child was born from the first term pregnancy, that had normal course. The child was delivered
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physiologically, with the birth weight of 3200 gr., height of 50 sm, but in an asphyxia. Mother is 29 years
old. The condition of child is bad from the moment of birth: frequent cramps, attacks of apnoea. Data of
assessment: microcephaly, microphtalmia and coloboma are observed, along with the widely and low
situated eyes, cleft soft and hard palate, upper lip. Bridge of the nose is hollow, ears are deformed and
low situated, lower jaw is elongated. Plural capillary hemangiomas are seen on the skin. At auscultation:
systolic murmur at all points, embryocardia. Specify what group of genetic diseases it belongs to.
A Bacterial disease
B mitochondrial disease
C multifactorial genetic disease
D *chromosomal diseases
E autosomal disease
A girl was born from the first term pregnancy, that had normal course. The child was delivered
physiologically, with the birth weight of 3200 gr., height of 50 sm, but in an asphyxia. Mother is 29 years
old. The condition of child is bad from the moment of birth: frequent cramps, attacks of apnoea. Data of
assessment: microcephaly, microphtalmia and coloboma are observed, along with the widely and low
situated eyes, cleft soft and hard palate, upper lip. Bridge of the nose is hollow, ears are deformed and
low situated, lower jaw is elongated. Plural capillary hemangiomas are seen on the skin. At auscultation:
systolic murmur at all points, embryocardia. Diagnosis: Patau’s syndrome. Write karyotype of the child.
A 47ХХХ
B 46ХХ
C 45Х0
D 45ХУ
E *XX+13
A girl was born from the first term pregnancy, that had normal course. The child was delivered
physiologically, with the birth weight of 3200 gr., height of 50 sm, but in an asphyxia. Mother is 29 years
old. The condition of child is bad from the moment of birth: frequent cramps, attacks of apnoea. Data of
assessment: microcephaly, microphtalmia and coloboma are observed, along with the widely and low
situated eyes, cleft soft and hard palate, upper lip. Bridge of the nose is hollow, ears are deformed and
low situated, lower jaw is elongated. Plural capillary hemangiomas are seen on the skin. At auscultation:
systolic murmur at all points, embryocardia. Diagnosis: Patau’s syndrome. Specify prognosis.
A *Child will die on the first year of life
B Child will die on the first 10 year of life
C Child will die on the first 20 year of life
D Child will has a healthy posterity
E posterity of this child will suffer from the same disease
A 14 years old boy is on the inpatient treatment in the infectious department with a diagnosis of the
follicular angina (acute tonsillitis).Except the clinical signs of this disease the following symptoms are
observed: large stature with the woman-like body proportions, narrow shoulder girdle, wide pelvis,
surplus of hypodermic basis, adult woman pattern of hair distribution on the pubis, a penis is of normal
size, intellect is considerably decreased.
A Marfan syndrome
B *Klinefelter syndrome
C Biological acceleration
D Gigantism
E Turner syndrome
A 5 y.o. child with stigmas of dysembryogenesis (small chin, thick lips, opened mouth,
hyperthelorismus) has systolic murmur in the second intercostals space to the right from the sternum. The
murmur irradiates to the neck and along the sternum. The pulse on the left brachial artery is weakened.
BP on the right arm is 110/60 mm Hg, on the left - 100/60 mm Hg. ECG results: hypertrophy of the right
ventricle. What defect is the most probable?
A *Aortic stenosis
B Defect of interventricular septum
C Defect of interatrial septum
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D Open aortic duct
E Coarctation of the aorta
The man is homozygous for a dominant gene, which causes polydactyly, and his wife - homozygous for
the recessive allele of this gene. Which of the biological laws of inheritance of polydactyly manifested in
their children?
A Law of segregation.
B *The low of independent by autosomal type
C The law inheritance
D The phenomenon of inheritance, sex-linked.
E Phenomenon linked inheritance of genes.
Sickle cell anemia (red blood cells have a sickle shape) extended among the population of tropical
Africa. What genetic pattern is the basis of the appearance of this disease?
A *Gene mutation.
B Chromosomal aberrations.
C Modification.
D Genomic mutations.
E Transduction.
Stillborn child had 49 chromosomes. What is the name of this mutation?
A Monosomy
B Duplication
C *Polysomy
D Translocation
E Trisomy
What method of medical genetics needs to be used for confirmation of the diagnosis of "Dawn’s
syndrome"
A *Cytogenetical
B Biochemical
C genealogical
D Immunological
E statistical
The screening-test on phenilketonuria of 5-day's child is positive. What treatment is needed for
preventive maintenance of serious complications in the future?
A Antibiotics
B Vitamin therapy
C *Diet
D Physiotherapy
E Hormonetherapy
In a newborn boy dry skin, covered with a thick layer of horny scales (ichthyosis) and resembles the skin
of reptiles. After exploring the family tree revealed that this trait is manifested in all generations only in
men. Which of the biological patterns seen in this case?
A Law of independent inheritance.
B Act of uniformity of hybrids II generation.
C Law of segregation.
D *The phenomenon of inheritance, sex-linked.
E Phenomenon linked inheritance of genes.
The result of genealogical analysis revealed that the disease that is in the proband happens in every
generation with a relatively large number of patients sibs. Man and woman are sick. What is it the type of
inheritance?
A X-linked recessive.
B Autosomal recessive.
C X-linked dominant.
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D * Autosomal dominant
E Mitochondrial
Phenylketonuria is inherited by autosomal recessive type. What genotypes can be in phenotypically
healthy man and woman, who can give birth to a child with phenylketonuria?
A Aa and aa.
B AA and AA.
C AA and Aa.
D * Aa and Aa.
E aa and aa.
Specify probability of birth of sick child in a family, where a child with a phenylketonuria is already
present:
A *25%
B 5%;
C 50%;
D 75%;
E 100%;
Specify the possibility of birth of child with adrenal hyperplasia in family, where a son from the 1-st
pregnancy has this syndrome, and a girl from the second pregnancy is healthy:
A about 0%;
B 5%;
C *25%;
D 50%;
E 100%.
What is a possibility of birth of child with a phenylketonuria in family, where the first child is sick, and
parents are healthy?
A *About zero
B 20%
C 25%;
D 50%;
E 100%.
What is a possibility of birth of child with a Marfan syndrom in a family, in which the mother and her
daughter from the first marriage are ill?
A About zero
B 20%
C 25%
D *50%
E 100%
What is a possibility of birth of child with a phenylketonuria in family, where both parents are
homozygotus on the phenylketonuria gene?
A About zero;
B 20%
C 25%;
D 50%;
E *100%
What is a possibility of birth of a girl who is a cystic fibrosis gene carrier in family, where mother is ill?
A About zero;
B 20%
C 25%;
D 50%;
E *100%
95 A woman with cystic fibrosis is the only case of disease in a family. Determine the risk for her grandson
to be the carrier of a pathological gene.
A About zero;
B 20%
C 25%;
D *50%
E 100%
Tasks to photo
1
2
3
4
5
6
7
Make a diagnosis (Fig. 13)
A Agenesis of left kidney;
B Hypoplasia of left kidney *
C Aplasia of left kidney;
D Duplication of right kidney;
E Polycystosis of right kidney.
Make a diagnosis (Fig. 8)
A Agenesia of right kidney;
B Duplication of right kidney*
C Aplasia of right kidney;
D Hypoplasia of left kidney;
E Polycystosis of right kidney.
Make a diagnosis(Fig. 9)
A Duplication of both kidneys
B Agenesia of right kidney;
C Dystopia of both kidneys;
D Hypoplasia of both kidneys;
E Polycystosis of both kidneys;
Make a diagnosis (Fig. 10).
A Pelvic dystopia of right kidney;
B Ileac dystopia of right kidney *
C Nephroptosis of right kidney;
D Lumbar ectopia of left kidney;
E Pyelonephritis of right kidney.
Make a diagnosis (Fig. 11)
A Ileac dystopia of right kidney;
B Nephroptosis of right kidney*
C Pelvic dystopia of right kidney;
D Lumbar dystopia of left kidney;
E Pyelonephritis of right kidney.
Make a diagnosis(Fig. 12)
A Ileac dystopia of right kidney
B Transposition of left kidney *
C Pelvic dystopia of right kidney
D Transposition of right kidney
E Lumbar dystopia of left kidney
Make a diagnosis (Fig. 14)
A Horseshoe-like kidney
B Polycystic kidney
C L-shaped kidney *
D Renal aplasia
E Renal decapsulation
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9
10
11
12
13
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16
Make a diagnosis. (Fig. 15)
A Hypoplasia of left kidney
B Duplication of left kidney
C Agenesia of left kidney *
D Glomerulonephritis of left kidney
E Polycystosis of right kidney
Make a diagnosis. (Fig. 16)
A L-shaped kidney;
B Polycystic kidney;
C Horseshoe kidney*
D Renal aplasia;
E Renal decapsulation.
What is represented on a photo (Fig. 36)?
A Healthy child
B epicantus*
C Mongoloid slant
D Pterygium
E Microcephaly
What is represented on a photo (Fig. 37)?
A Healthy child
B Microcephaly*
C Mongoloid slant
D Pterygium
E epicantus
What is represented on a photo (Fig. 38)?
A Healthy child
B Microgeny *
C Mongoloid slant
D Microcephaly
E Epicantus
What is represented on a photo (Fig.39)?
A Healthy child
B Pterygium
C Microcephaly
D Mongoloid slant *
E Epicantus
What is represented on a photo (Fig. 40)?
A Polydactyly
B Clinodactyly
C Arachnodactyly
D Syndactyly*
E Pterigium
What is represented on a photo (Fig.45)?
A Syndactyly
B Clinodactyly
C Arachnodactyly
D Polydactyly*
E Brachydactyly
What is represented on a photo (Fig. 46)?
A Syndactyly
B Polydactyly
C Arachnodaktyly*
D Clinodactyly
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18
19
20
21
22
23
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25
E Brachydactyly
What is represented on a photo (Fig. 47)?
A Syndactyly
B Polydactyly
C Clinodactyly
D Brachydactyly*
E Arachnodactyly
What is represented on a photo (Fig. 41)?
A Arachnodactyly*
B Sindactyly
C Polydactyly
D Clinodactyly
E Brachydactyly
Which genetic disease may be suspected in a sick child (Fig. 42)?
A Patau syndrome
B Edward syndrome
C Marfan syndrome
D Down syndrome *
E Turner syndrome
What is represented on a photo (Fig. 43)?
A Hypotelorism
B Epicanthus
C Hypertelorism *
D Hirsutism
E Macrognathia
Which genetic disease can be suspected in a sick child (Fig. 43)?
A Pataus syndrome
B Edward syndrome
C Marfan syndrome
D Downs syndrome *
E Turner’s syndrome
To what type of genetic diseases this syndrome applies (Fig.43)?
A Multifactorial diseases
B monogene pathology
C Anomalies of autosome*
D genomes
E Anomalies of sex chromosome
What symptom is absent in a child (Fig. 43)?
A Hypertelorism
B Mongoloid slant
C Macroglossia
D Epicantus *
E Microglossia
What is represented on a photo (Fig. 44)?
A Normal picture on a palm
B Clinodactyly
C Transversal fold on a palm*
D Longitudinal fold on a palm
E Brachydactyly
Which genetic disease can be suspected in a sick child (Fig.44)?
A Patau syndrome;
B Edward syndrome;
C Marfan syndrome
26
27
28
29
30
31
32
33
34
D Down syndrome*
E Turner syndrome
To what type of genetic diseases this syndrome applies (Fig.44)?
A Multifactorial diseases
B monogene pathology
C Anomalies of autosome*
D genomes
E Anomalies of sex chromosome
Which genetic disease could be suspected in a sick child (Fig. 29)?
A Turner syndrome*
B Patau syndrome;
C Edward syndrome;
D Marfan syndrome
E Down syndrome;
Which is a karyotype at this pathology (Fig. 29)?
A 47ХХХ
B 46ХХ
C 45X0*
D 45ХУ
E 47ХХУ
To what type of genetic diseases this syndrome applies (Fig. 29)?
A Multifactorial diseases
B Anomalies of sex chromosome*
C monogene pathology
D genomes
E Anomalies of aytosome
Which genetic disease could be suspected in a patient (Fig. 48)?
A Down syndrome
B Edwrd syndrome;
C Kleinfelter syndrome*
D Marfan syndrome
E Turner syndrome
Which karyotype is at this pathology (Fig. 48)?
A 47ХХУ*
B 47ХХХ
C 46ХХ
D 45X0
E 45ХУ
To what type of genetic diseases this syndrome applies (Fig. 48)?
A Multifactorial diseases
B monogene pathology
C Anomalies of sex chromosome*
D genomes
E Anomalies of aytosome
Which genetic disease can be suspected in this patient (Fig. 49)?
A Down syndrome
B Kleinfelter syndrome
C Edwrd syndrome;
D Patau syndrome*
E Turner syndrome
Which karyotype is at this pathology (Fig. 49)?
A 46 XX/45.XO
B 46 ХХ,5p-
35
36
37
38
39
40
41
42
43
C 47 XXY
D 47 XY, +13*
E 47 XX, +18
To what type of genetic diseases this syndrome applies (Fig. 49)?
A Multifactorial diseases
B Anomalies of autosome*
C monogene pathology
D genomes
E Anomalies of sex chromosome
Which genetic disease can be suspected in the patient (Fig. 50)?
A Down syndrome
B Kleinfelter syndrome
C Marfan syndrome
D Edward syndrome*
E Turner syndrome
Which karyotype is at this pathology (Fig. 48)?
A 47 XX,18+
B 46 XX,45.XO
C 46 XX, 5pD 47 XXY*
E 47 XY,13+
To what type of genetic diseases thise syndrome applies (Fig. 50)?
A Multifactorial diseases
B monogene pathology
C Anomalies of autosome*
D genomes
E Anomalies of sex chromosome
Which genetic disease can be suspected in the patient (Fig. 51)?
A Down syndrome
B Klinefelter syndrome
C Edward syndrome
D « Cat scream » syndrome*
E Patau syndrome
Which karyotype is at this pathology (Fig. 51)?
A 46 XX,45.XO
B 47 XXY
C 47 XX,18+
D 46 XX, 5p-*
E 47 XY,13+
To what type of genetic diseases this syndrome applies (Fig. 51)?
A Multifactorial diseases
B monogene pathology
C Anomalies of autosome*
D genomes
E Anomalies of sex chromosome
Which karyotype is represented on a photo (Fig. 4)?
A 46 XX/45.XO
B 47 XXY
C 47 ХY,13+
D Of a healthy man *
E 47 XX,18+
Which genetic disease can be suspected in a patient (Fig. 6)?
A Down syndrome
44
45
46
47
48
49
50
51
52
B Edward syndrome;
C Klinefelter syndrome*
D «Cat scream» syndrome
E Patau syndrome
Which genetic disease may be suspected in a patient (Fig. 35)?
A Down syndrome
B Edward syndrome
C Neurofibromatosis*
D Phenylketonuria
E Patau syndrome
To what type of genetic diseases this syndrome applies (Fig. 35)?
A Anomalies of autosome
B Multifactorial diseases
C monogene pathology*
D genomes
E Anomalies of sex chromosome
Which genetic disease can be suspected in the patient (Fig. 2)?
A Klinefelter syndrome
B Edward syndrome;
C Down syndrome
D «Cat scream» syndrome
E Patau syndrome
Which genetic disease can be suspected in a patient (Fig. 32)?
A Neurofibromatosis
B Ehlers-Danlos syndrome *
C Edward syndrome
D Phenylketonuria
E Patau syndrome
To what type of genetic diseases thise syndrome applies (Fig. 32)?
A Anomalies of autosome
B Multifactorial diseases
C monogene pathology*
D genomes
E Anomalies of sex chromosome
Which genetic disease can be suspected in a patient (Fig. 33)?
A Ehlers-Danlos syndrome
B Neurofibromatosis
C Klinefelter syndrome
D Marfan syndrome*
E Phenylketonuria
To what type of genetic diseases thise syndrome applies (Fig. 33)?
A Anomalies of autosome
B Multifactorial diseases
C monogene pathology*
D genomes
E Anomalies of sex chromosome
Which genetic disease can be suspected in a patient (Fig. 34)?
A Ehlers-Danlos syndrome
B Neurofibromatosis
C Marfan syndrome*
D Klinefelter syndrome
E Phenylketonuria
What is represented on a photo (Fig. 34)?
53
54
55
56
57
58
59
60
A Syndaktyly
B Polydactyly
C Arachnodaktyly*
D Clinodactyly
E Brachydactyly
To what type of genetic diseases does these syndrome applies (Fig. 34)?
A Anomalies of aytosome
B Multifactorial diseases
C Genomes
D monogene pathology*
E Anomalies of sex chromosome
Which karyotype is represented on a photo (Fig. 3)?
A Of a healthy man
B Klinefelter syndrome
C Patau syndrome
D Of a healthy woman *
E Edward syndrome
Which karyotype is represented on a photo (Fig. 5)?
A Of a healthy woman
B Of a healthy man
C Patau syndrome *
D Klinefelter syndrome
E Edward syndrome
Which karyotype is represented on a photo (Fig. 7)?
A Of a healthy woman
B Of a healthy man
C Klinefelter syndrome
D Edward syndrome *
E Patau syndrome
What is represented on a photo (Fig. 30, mark A)?
A lymphedema
B long neck
C short webbed neck*
D poor heard growth
E adenoma of thyroid
What is represented on a photo (Fig. 30, mark B)?
A long arm
B abnormal joint flexibility
C cubitus valgus*
D lymphedema
E Brachydactyly
What is represented on a photo (Fig. 30, mark C)?
A flat feet
B lymphedema*
C cubitus valgus
D renal edema
E cardiac edema
What is represented on a photo (Fig. 52)?
A Lymphedema
B Brachydactyly
C Clinodactyly
D Clubbing fingers*
E podgy hand
61 Which genetic disease can be suspected in a patient (Fig. 31)?
A Marfan syndrome
B Neurofibromatosis
C Ehlers-Danlos syndrome*
D Klinefelter syndrome
E Phenylketonuria
62 To what type of genetic diseases this syndrome applies (Fig. 31)?
A genomes
B Multifactorial diseases
C monogene pathology*
D Anomalies of aytosome
E Anomalies of sex chromosome
63 What is represented on a photo (Fig. 17)?
A Hypoplasia of right lung
B Duplication of left lung
C Dystopia of left lung
D Agenesia of right lung*
E Aplasia of left lung
64 What is represented on a photo (Fig. 18)?
A Agenesia of right lung
B Duplication of left lung
C Hypoplasia of right lung*
D Dystopia of left lung
E Aplasia of left lung
65 What is represented on a photo (Fig. 19, mark A)?
A ventricular septal defect
B patent ductus arteriosus
C atrial septal defect*
D tetralogy of Fallot
E Transposition of the great vessels
66 What is represented on a photo (Fig. 20, mark A)?
A atrial septal defect
B patent ductus arteriosus
C ventricular septal defect*
D tetralogy of Fallot
E Transposition of the great vessels
67 What is represented on a photo (Fig. 20, mark B)?
A atrial septal defect
B ventricular septal defect
C truncus arteriosus*
D tetralogy of Fallot
E Transposition of the great vessels
68 What is represented on a photo (Fig. 21, mark A)?
A atrial septal defect
B patent ductus arteriosus
C ventricular septal defect*
D tetralogy of Fallot
E Transposition of the great vessels
69 What is represented on a photo (Fig. 22, mark A)?
A ventricular septal defect
B patent ductus arteriosus
C atrial septal defect*
D coarctation of the aorta
70
71
72
73
74
75
76
77
78
E Transposition of the great vessels
What is represented on a photo (Fig. 22, mark B)?
A ventricular septal defect
B atrial septal defect
C patent ductus arteriosus*
D coarctation of the aorta
E Transposition of the great vessels
What is represented on a photo (Fig. 22, mark C)?
A Closed mitral valve*
B coarctation of the aorta
C pulmonary stenosis
D patent ductus arteriosus
E Transposition of the great vessels
What is represented on a photo (Fig. 22, mark D)?
A right ventricular hypertrophy
B left ventricular hypertrophy
C hypoplastic left ventricule*
D ventricular septal defect
E hypoplastic right ventricule
What is represented on a photo (Fig. 23)?
A coarctation of the aorta
B pulmonary stenosis
C Transposition of the great vessels*
D patent ductus arteriosus
E tetralogy of Fallot
What is represented on a photo (Fig. 23, mark A)?
A transposed aorta
B coarctation of the aorta
C transposed pulmonary artery*
D pulmonary stenosis
E patent ductus arteriosus
What is represented on a photo (Fig. 23, mark B)?
A transposed pulmonary artery
B coarctation of the aorta
C pulmonary stenosis
D transposed aorta*
E patent ductus arteriosus
What is represented on a photo (Fig. 24)?
A Transposition of the great vessels
B ventricular septal defect
C atrial septal defect
D tetralogy of Fallot*
E patent ductus arteriosus
What is represented on a photo (Fig. 24, mark A)?
A atrial septal defect
B patent ductus arteriosus
C transposed pulmonary artery
D ventricular septal defect*
E transposed aorta
What is represented on a photo (Fig. 24, mark B)?
A coarctation of the aorta
B patent ductus arteriosus
C pulmonary stenosis*
79
80
81
82
83
84
85
86
D aortal stenosis
E transposed pulmonary artery
What is represented on a photo (Fig. 24, mark C)?
A left ventricular hypertrophy
B ventricular septal defect
C hypoplastic right ventricule
D right ventricular hypertrophy*
E hypoplastic left ventricule
What is represented on a photo (Fig. 25, mark A)?
A pulmonary stenosis
B patent ductus arteriosus*
C aortal stenosis
D transposed pulmonary artery
E coarctation of the aorta
What is represented on a photo (Fig. 26, mark A)?
A patent ductus arteriosus
B pulmonary stenosis
C coarctation of the aorta*
D aortal stenosis
E transposed pulmonary artery
Which genetic disease can be suspected in a patient (Fig. 54)?
A Neurofibromatosis
B Edward syndrome
C Ehlers-Danlos syndrome*
D Mucopolysaccharidoses
E Marfan syndrome
To what type of genetic diseases this syndrome applies (Fig. 54)?
A Anomalies of autosome
B Multifactorial diseases
C monogene pathology*
D genomes
E Anomalies of sex chromosome
This 6 week old female presented with symptoms of jaundice, with open mouth and extruded tongue, flat
nose, protuberant abdomen, umbilical hernia, constipation, hoarse voice, lethargy, mental retardation.
Which congenital disease can be suspected in a patient (Fig. 55)?
A Phenylketonuria
B Hypophosphatasia
C congenital hypothyroidism *
D Mucopolysaccharidoses
E Galactosemia
The following human pedigree suggests what mode of inheritance (Fig. 27)?
A X-linked recessive
B X-linked dominant.
C autosomal dominant
D autosomal recessive*
E Y- linked
The following human pedigree suggests what mode of inheritance (Fig. 28)?
A X-linked recessive*
B X-linked dominant.
C autosomal recessive
D Y-linked
E autosomal dominant