Download ID_3743_Medical genetics (tests)_English_sem_9

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Prenatal research is performed in the following number of stages:
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The first stage of prenatal research includes:
Triple test.
Combined test.
Cord centesis
Amniocentesis.
Doppler ultrasound.
The first stage of prenatal research includes:
Triple test.
Ultrasound.
Cord centesis
Amniocentesis.
Dopler ultrasound.
The second stage of the prenatal research includes:
Triple, combined tests.
Combined test, amniocentesis, cord centesis.
Ultrasound, amniocentesis, EKG.
Amniocentesis, ultrasound.
Triple test, ultrasound, amniocentesis, cord centesis.
The third stage of prenatal research includes:
Triple test and ultrasound.
Combined test.
Cord centesis and ultrasound.
Amniocentesis.
Ultrasound and Dopler ultrasound.
The determination of level of alpha-fetoprotein enables to assume the presence of innate defects of:
Neuronal tube.
Heart.
Bones.
Kidneys.
Chest wall.
The determination of level of alpha-fetoprotein enables to assume the presence of innate defects:
Abdomen wall
Heart.
Bones.
Kidneys
Chest wall.
Alfa-fetoprotein is secreted antenatally in:
Kidneys.
Pancreas.
Liver.
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Spleen.
Gonads.
The optimum term for the research of alpha-fetoprotein is:
10-15 weeks.
15-18 weeks.
16-20 weeks.
20-24 weeks.
25-30 weeks.
The content of alpha-fetoprotein at normal conditions depends on the following:
Term of pregnancy.
Laboratory.
Geography area.
Race of a human.
All mentioned above.
The content of alpha-fetoprotein at presence of innate defects of neurotubule:
Normal.
Decreased.
Increased.
Depends on the term of pregnancy.
Depends on the defect of development.
The content of alpha-fetoprotein at the Down’s syndrome is:
Normal.
Decreased.
Significantly increased.
Depends on the term of pregnancy.
Slightly increased.
Ultrasonic screening is especially effective for the diagnostics of:
Innate defects of heart.
Defects of visceral cranium.
Defects of distal parts of extremities.
Innate defects of the central nervous system.
Chromosome pathologies.
Ultrasonic screening is especially effective for diagnostics of:
Innate defects of heart.
Defects visceral cranium.
Defects of distal parts of extremities.
Plural innate teratosis.
Chromosome pathologies.
The main difficulties at the ultrasonic screening arise during authentication of:
Isolated defects of heart.
Innate defects of central nervous system.
Plural defects of development.
Innate defects of the central and peripheral nervous system.
All mentioned above.
The choice of invasive method depends on the followings factors:
Gestational term.
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Indications to its use.
Instrumental equipment of the center of prenatal diagnostics.
Experience of doctor.
All is mentioned above.
An indication to the invasive method of prenatal diagnostics is:
Age of the pregnant woman is 37 years and more.
Inflammatory disease with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
All mentioned above.
An indication to the invasive method of prenatal diagnostics is:
Uterine operations in anamnesis.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
A birth of a child with chromosomal pathology in a family.
An indication to the invasive method of prenatal diagnostics is:
Translocation of chromosomes in one of parents.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
All mentioned above.
An indication to the invasive method of prenatal diagnostics is:
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.
An indication to the invasive method of prenatal diagnostics is:
All mentioned.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
Sex-linked disease.
An indication to the invasive method of prenatal diagnostics is:
Birth in a family of a few children with innate teratosises.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
All mentioned.
An indication to the invasive method of prenatal diagnostics is:
All mentioned.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
Autosomal recessive diseases.
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An indication to the invasive method of prenatal diagnostics is:
Suspicion on innate or inherited pathology of fetus during ultrasound examination.
Inflammatory diseases with the rise of temperature.
Threatened abortion with bleeding.
Numerous laparotomies in anamnesis.
All mentioned above.
The program of mass screening of new-born consists of … stages:
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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:
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Laboratory screening diagnostics belongs to the following stage of the mass screening program of
new-born:
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Clarification diagnostics of all cases with positive results got at screening belongs to the … stage of
the program of mass screening of new-born:
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5.
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:
1.
2.
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5.
Меdical genetic consulting of family belongs to the … stage of mass screening of new-born:
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At mitochondrial diseases most often are affected:
Brain
Kidneys.
Hypothalamus.
Thyroid gland.
Pancreas.
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 course of disease at the MERFF syndrome is:
Acute.
Recurrent.
Chronic.
Progressive
Protracted.
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 Kearns-Sayre 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.
One of the important symptoms of mitochondrial pathology is:
Fever
Intercurrent infections.
Intolerance to the physical activity
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Dementia.
Hyperelastisity of skin
What is not used for the treatment of mitochondrial disease :
Thiamine.
Tocopherol.
Prednisolone
Riboflavin.
Lipoic acid.
Which one dose belong to the indirect methods of prenatal diagnostics?
Ultrasound
Medical genetic counseling.
ЕCG.
X-ray.
chorion biopsy.
Which one belongs to the indirect methods of prenatal diagnostics?
ЕCG.
Ultrasound.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant
X-ray.
Fetoscopy.
What does belong to the direct methods of prenatal diagnostics?
Obstetric gynecologic examination.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
Medical-genetic counseling.
Ultrasound
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
The first stage of prenatal research includes:
Triple test.
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Ultrasound
Cord centesis
Amniocentesis.
Doppler ultrasound.
The first stage of prenatal research is performed at the following term of pregnancy:
The first 10 weeks
15-22 weeks.
16-25 weeks.
5-10 weeks.
25-30 weeks.
The second stage of prenatal research is performed at the following term of pregnancy:
The first 10 weeks.
10-15 weeks.
16-20 weeks
20-25 weeks.
25-30 weeks.
The third stage of prenatal research is performed at the following term of pregnancy:
The first 10 weeks.
15-22 weeks.
16-25 weeks.
25-30 weeks.
32-36 weeks
Ultrasonic screening is especially effective for the diagnostics of:
Innate defects of heart.
Defects of visceral cranium.
Defects of distal parts of extremities.
Innate defects of the central nervous system
Chromosome pathologies.
The main difficulties at the ultrasonic screening arise during identification of:
Isolated defects of heart
Innate defects of central nervous system.
Plural defects of development.
Innate defects of the central and peripheral nervous system.
All mentioned above.
Screening for phenylketonuria is performed on the following day of life of a child:
1-2.
2-3.
3-4.
3-5
2-4.
The first stage of the program of mass screening of new-born includes:
Treatment of sick and regular medical check-up with the control of the course of treatment.
Laboratory screening diagnostics.
Clarification diagnostics of all cases with positive results got during the screening.
Biopsy of material for research in all of new-born and its delivery to the diagnostic laboratory
Medical genetic consulting of a family.
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The second 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.
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
What food is eliminated from the ration of patients with phenylketonuria?
Animal proteins
Fruits
Cereal products
Vegetables
Olive oil
What food is eliminated from the ration of patients with galactosemia?
Animal protein
Cow milk
Cereal products
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Vegetables
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:
Homocystinuria;
Hypophosphatasia;
Phenylketonuria;
Cystinuria;
Galactosemia.
What smell is typical for phenylketonuria?
Cabbage smell;
Smell of sweaty feet;
Mouse or fusty;
Smell of rotten fish;
Smell of hop.
What symptom is typical for a glycogenosis?
Nephrocalcinosis;
Red spots on a retina;
Opisthotonos;
Glucosuria without a hyperglycaemia;
An accumulation of glycogen in internal organs, nervous system and lymphatic nodules.
What symptom is typical for Niemann–Pick disease?
Nephrocalcinosis;
Red spots on a retina;
opisthotonos
Glucosuria without a hyperglycaemia;
An accumulation of glycogen in internal organs, nervous system and lymphatic nodules.
Laboratory findings that are the characteristic for Niemann–Pick disease:
A presence of specific cells in puncture sample of bone marrow, spleen
Glucosuria
Absence of increase of glycemia after the lactose loading
Positive Gatri’s test
Positive Sulkovich’s test
Laboratory finding that is typical for phenylketonuria:
A presence of specific cells in puncture sample of bone marrow, spleen
Glucosuria
Absence of increase of glycemia after the lactose loading
Positive Gatri’s test
Positive Sulkovich’s test
The action of mutant gene at monogenic pathology shows up:
Only by clinical symptoms;
On clinical, biochemical and cellular levels
Only on the particular stages of metabolism;
Only by the loss of function of protein
Does not show up clinically.
Neurofibromatosis is diagnosed on the basis of:
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Clinical and biochemical data;
Clinical presentation
Research of enzyme type;
Cytological research;
Pathomorphologically only.
The etiologic factor of the monogenic inherited pathology is:
Transference of a part of chromosome on another chromosome;
the change of DNA structure
By interaction of genetic and external factors
Deletion of a part of chromosome;
Duplication
Basis for the diagnosis of Marfan syndrome is:
Only complaints of patient;
Only information of domestic anamnesis;
Characteristic set of clinical signs
Biochemical data;
Data of pathomorphologycal examination
Classification of gene illnesses is possible on the basis of:
Age of patient at the onset of the disease;
Sex of a sick child;
Type of mutation;
Type of inheritance
Character of dysmorphic signs
The diagnosis of cystic fibrosis is based on:
Biochemical analysis;
Data of ophthalmologic examination;
Sodium and chlorine content in a sweat
Electromyography data;
Results of nonclinic diagnostic measures.
What is not the characteristic sign of the Ehlers-Danlos Syndrome?
Hyperelasticity of skin;
Increased vulnerability of skin;
Mental retardation
Prolaps of mitral valve;
Scoliosis.
The Ehlers-Danlos syndrome is:
Inherited defect of bone tissue;
Inherited defect of epithelial tissue;
Inherited defect of nervous tissue;
Inherited defect of muscle tissue;
Inherited defect of connective tissue
How many forms of Ehlers-Danlos syndrome are identified in nowadays?
5;
10
8;
3;
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Bleeding at the Ehlers-Danlos syndrome is not caused:
By the defect of vascular wall as a result of anomalousness of collogen;
By the decrease of ability of collogen to predetermine аaggregation of thrombocytes;
By the decrease of adhesiveness of thrombocytes;
By the decrease of pulse wave speed as a result of decline of vascular wall elasticity.
By the decrease of number of thrombocytes
At the Ehlers-Danlos syndrome there are primary or secondary disorders:
Only of nervous system;
Only of cardiovascular system;
Only of skin and joints;
Of all organs and systems, except for central nervous system
Of all organs and systems
At the Ehlers-Danlos syndrome there are such changes of CNS:
Aneurismas of brain vessels
Anomalies of brain tunics;
Hydrocephaly;
Anomalies of cranial nerves;
Spinal hernia.
At the Ehlers-Danlos syndrome there are the following changes of digestive system:
Gallstone disease;
Spastic colitis;
Dyspancreatism;
Chronic hepatic insufficiency;
Gastroptosis;
At the Ehlers-Danlos syndrome there are the following changes of heart:
Ventricular septal defect.
Atrial septal defect.
Prolaps of mitral valve
Patent ductus arteriosus.
Mitral stenosis.
What deformations of joints are typical for Ehlers-Danlos syndrome?
Hyperextension of interphalangeal joints
Contractures of knee-joints
Arthralgia
Fusiform deformation of elbows
An increase in joints’ volume
What deformation of the thorax is typical for Ehlers-Danlos syndrome?
Keeled chest
Barrel chest
Flat back
Deformations of collar-bones and ribs
Rachitic rosary
The following change of urinary system takes place in patients with the Ehlers-Danlos syndrome:
Oxaluria;
Uraturia;
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Proteinuria;
Nephroptosis
Leukocyturia.
Gene diseases are caused:
By the change of the amount of autosomes;
By the loss of the part of chromosome;
Duplication of part of chromosome;
D.By the loss of two and more genes;
By the mutation of one gene
What syndrome is not considered as pathology of connective tissue?
Down syndrome;
Marfan syndrome;
Ehlers-Danlos syndrome
Mucopolysaccharidosis ;
Unaccomplished osteogenesis.
The involvement of cardiovascular system at the Marfan syndrome to 40 years of age shows up:
By aneurysm of aorta
By forming of mitral valve heart-disease;
By the transposition of main vessels;
By myocardial infection;
By the vascular dystonia
What heart defect is typical for the Marfan's syndrome in childhood?
Aortic stenosis;
Forming of mitral defect of a heart;
Transposition of main vessels;
Myocardial infarction;
Prolaps of mitral valve
What changes in skeleton is typical for the Marfan syndrome?
Rounded face;
Arachnodactyly
Short extremities;
Small stature;
Acromegalia.
What changes of skeleton is typical for the Marfan syndrome?
Short bones of extremities;
Salient chin;
Predominance of height of body above mass
Predominance of mass of body above height;
Acromegalia.
What changes in organ of vision is typical for the Marfan syndrome, except for?
Spherephakia;
Subluxation;
Retinal detachment;
Cataract
Flattening of cornea.
The involvement of the pulmonary system shows up at the Marfan syndrome:
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By bronchitis;
By pneumosclerosis;
By spontaneous pneumothorax
By the pulmonary atelectasis ;
By frequent pleuritis.
The involvement of the central nervous system shows up at Marfan syndrome:
By meningitis;
By encephalitis;
Lumbar-coccygeal meningocele
By hydrocranium;
By encephalopathy.
Reproductive function at the Marfan syndrome:
Is absent;
Is normal
Sharply depressed;
Hypogonadism;
Hermaphroditism.
After what age the changes of CNS resulting from the innate hypothyroidism become irreversible in
the absence of treatment :
2-4 weeks of life
4-6 weeks life
6-10 weeks life
10-12 weeks life
12-14 weeks life
Manifestation of mild variants of innate hypothyroidism can take a place in age of:
from the moment of birth
2-5 years
6-7 years
7-10 years
in adults
Manifestation of mild variants of innate hypothyroidism may take place in the age:
from the moment of birth
6-8 years
8-10 years
in the period of puberty
adult
Thyroid gland in the absolute majority of children with an innate hypothyroidism:
is not changed
tuberous (knobby)
smooth
hyperplastic
hypoplastic
The medicine of choice for treatment of innate hypothyroidism is:
mercasolil
prednisolon
thyroxin
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мetisol
imidazole
What is typical for an innate hypothyroidism?
prolonged jaundice
incomplete pregnancy
deficit of weight according to the gestation age
diarrhea
early falling off of umbilical remain
The following method is used for the confirmation of diagnosis of innate hypothyroidism:
Ultrasound examination of thyroid gland
Determination of thyrotrophic hormones levels in mother
Determination of autoantibodies in the mother’s blood
Determination of thyrotrophic hormones levels in a child
Puncture biopsy of thyroid
What is typical for an innate hypothyroidism?
prolonged pregnancy
incomplete pregnancy
innate malnutrition
diarrhea
early falling off of umbilical remain
What is typical for an innate hypothyroidism?
birth overweight
birth weight deficits
frequent diarrhea
agitation
innate malnutrition
What is typical for an innate hypothyroidism?
Constipation
diarrhea
early falling off of umbilical remain
innate malnutrition
agitation
What hormones levels are typical for an innate hypothyroidism?
decline of T4 level, increase of T3 level
increase of T4 level, decline of T3 level
decline of level of T4, T3, TSH(thyroid stimulating hormone)
decline of level of T4, T3 and increase of level of TSH
increase of level of T4, T3, TSH
What is not a subject of study of medical genetics?
Causes of origin of the inherited diseases of human
Character of inheritance by descendants
Prevalence of the inherited diseases in population
Specific processes of inheritance on cellular and molecular levels
The role of conditions of external environment in development of acute infectious pathology, traumas
and poisonings
Centromere is:
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Measure of body
A structure at the end of a shoulder of chromosome
Pericentral part of chromosome
Satellite
Chromosomal strangulation, dividing a chromosome into two parts
Pathologically small mouth is described as a:
Micrognathia
Micromelia
Microstomia
Miсrokoria
Sinfriz
What develops as a result of action of teratogens:
Gene mutations
Aneuploidy
Structural alterations of chromosomes
Phenocopies
Gene copies
At what period of cell cycle do chromosomes acquire the doubled structure?
G-0
G-1
S
G-2
During mitosis
Which chromosomes do belong to the group C?
Large mediacentric
Small mediacentric
Middle acrocentric
Middle submediacentric
Large submediacentric
What chromosomes do belong to the group A?
Large mediacentric
Small mediacentric
Middle acrocentric
Middle submediacentric
Large submediacentric
Which chromosomes do belong to the group B?
Large mediacentric
Small mediacentric
Middle acrocentric
Middle submediacentric
Large submediacentric
Which groups of human chromosomes are classified on by size and position of centromere?
A, B, C, D, E, F, G
1, 2, 3, 4
The first, the second, the third, the fourth
A, B, C
E.
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I, II, III, IV, V
Which chromosomes do belong to the group F?
Large mediacentric
Small mediacentric
Middle acrocentric
Middle submediacentric
Large submediacentric
What is a cause of chromosomal disease?
Disorder of amount of chromosomes
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
environment factors
What is the cause of monogenic diseases?
Disorder of amount of chromosomes
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
contingency
What is a cause of multifactorial diseases?
Disorder of amount of chromosomes
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
only environmental factors
Which method is used for the study of genetic and environmental factors?
Clinic genealogy
Genetic
Microbiological
Cytological
Twin study
What chromosomes do belong to the group G:
Large acrocentric
Small acrocentric
Small metacentric
Middle metacentric
Large submetacentric
The haploid number is contained in the following cells:
Neurons
Hepatocytes
Zygotes
Gametes
Epithelial
The programmed death of a cell is called:
Apoptosis
Necrosis
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Degeneration
Chromatolisis
Mutation
Colchicine stops the dividing of a cell on the following stage:
Anaphases
Prophase
Metaphase
Telophase
All of them
Chromosomal mutation - is:
Change of number of chromosomes
Change of chromosome structure
Transfer of centromere along the chromosome
Disbalance with heterochromatin
Simultaneous disorder in the structure of several genes
Genome mutation – is a:
Disorder of the structure of gene
Change of the number of chromosomes
Accumulation of intron repetitions
Change of structure of chromosomes
Simultaneous disorder in the structure of several genes
A teratogen is a factor, that:
Affects DNA, creating inheritable changes in it
Causes changes in chromosomal complex
Causes anatomic disorders of foetus
Determines appearance of gene copies
Affects DNA
What cells do not contain 46 chromosomes:
Gametes
Myocytes
Neurons
Hepatocytes
Epithelial cells
In case of mental retardation and mongoloid slant in a child what disease could be suspected?
Galactosemia;
Down syndrome
Edward syndrome;
Syndrome of «cat-like scream»;
Phenylketonuria.
At presence of mental retardation and cleft upper lip and palate in a child it is possible to suspect:
Galactosemia;
Patau syndrome
Down syndrome;
Syndrome of «cat-like scream»;
Phenylketonuria.
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At presence of mental retardation together with the changes of neurocranium of face and other
dismorphic signs it is possible to suspect:
Galactosemia;
Down syndrome;
Edward syndrome
Syndrome of «cat-like scream»;
Phenylketonuria.
At presence of mental retardation together with moon-like face and specific voice it is possible to
suspect:
Galactosemia;
Down syndrome;
Edward syndrome;
Syndrome of «cat-like scream»
Phenylketonuria.
At presence of mental retardation and sexual underdevelopment in teenager it is possible to suspect:
Galactosemia;
Down syndrome;
Edward syndrome;
Syndrome of «cat-like scream»;
Klinefelter syndrome
Prenatal retardation together with the changes of bones and other dismorphies in newborn child give
the possibility to suspect:
Galactosemia;
Cystic fibrosis;
Edward syndrome
Syndrome of «cat-like scream»;
Phenylketonuria.
Trisomy 18 is:
Down syndrome;
Patau syndrome;
Edward syndrome
Mosaicism;
Syndrome of «cat-like scream»;
Trisomy 21 is:
Down syndrome
Patau syndrome;
Edward syndrome;
Mosaicism;
Syndrome of «cat-like scream»
Trisomy 13 is:
Down syndrome;
Patau syndrome
Edward syndrome;
Mosaicism;
Syndrome of «cat-like scream»;
Partial monosomy of 5th chromosome is:
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Down syndrome;
Patau syndrome;
Edward syndrome;
Mosaicism;
Syndrome of «cat-like scream»
A determinant factor in differential diagnostics of chromosomal illnesses is:
Assessment of mental development;
Assessment of sexual development;
Cytogenetic research
Assessment of physical development;
Ultrasound
Specify the correct cariotype formula of Turner is syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
47 XX,18+
Specify the correct karyotype formula of Edward syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
47 XX,18+
Specify the correct karyotype formula of «cat-like scream» syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
47 XX,18+
Specify the correct karyotype formula of Patau syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
47 XX,18+
Specify the correct karyotype formula of Down syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
47 XX,21+
Specify the correct karyotype formula of Turner syndrome:
46XX/45XO
46XX,5p47XXY
47 XY,13+
E.
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47 XX,18+
What is typical for chromosomal diseases?
Lag in mental development
Presence of teleangiectasias on a skin;
Unusual color of skin;
Unusual color and smell of feces;
big growth
What is characteristic for the chromosomal diseases?
Good mental development;
Presence of teleangiectasias on skin;
Unusual color of skin;
Unusual color of eyes;
Plural dismorphies
What is characteristic for the chromosomal diseases?
Good mental development;
Presence of teleangiectasias on a skin;
Unusual color of skin;
Numerous developmental defects
big growth
Which pathology is present in a child with кaryotype 47 XY+21?
Klinefelter syndrome
Down syndrome
Innate hypothyroidism
Phenylketonuria
Patau syndrome
What changes in skeleton is typical for the Marfan syndrome?
Short bones of extremities
Salient chin
Predominance of height of body above mass
Predominance of mass of body above height
Acromegalia
What medical tactic is not applied to patients with the Marfan syndrome?
Regular medical check-ups of narrow specialists
Limitation of physical activity
Replacement therapy with corticosteroids
Propranolol
Reconstructive cardiovascular operations
What disease is considered to be a lysosomal storage disorder?
Hiperlipoproteinemia
Mucoviscidosis
mucopolysaccharidosis
Galactosemia
Albinism
All mentioned below are clinical signs of mucopolysaccharidosis, except for:
Gigantism
Disproportion body-build
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normal mental development
Hypertrichosis
Poor hearing
All mentioned below are clinical signs of mucopolysaccharidosis type I, except for:
Microcephaly
Disproportion body-build
Mental retardation
Hypertrichosis
Poor hearing
What medical measures are not used for treatment of mucopolysaccharidosis?
Surgical correction of heart (valvular) diseases
Surgical correction of pathological mobility cervical vertebras
Replacement therapy with hormones
Replacement therapy with enzymes
Correction of behavioral problems
What group of diseases does mucopolysaccharidosis belongs to?
lusosomal disorders
mitochondrial
monogenic
chromosomal
multifactorial
Type I Neurofibromatosis is characterized by the development of:
Multiple neurofibromas in hypoderma without Lish’s nodules;
Bilateral neuromas of auditory nerve;
Intraocular tumor of retina;
Palmar neurofibromas;
Multiple neurofibromas in hypoderma and Lish’s nodules
Type II Neurofibromatosis is characterized by the development of:
Multiple neurofibromas in hypoderma without Lish’s nodules;
Bilateral neuromas of auditory nerve
Intraocular tumor of retina;
Palmar neurofibromas;
Multiple neurofibromas in hypoderma and Lish’s nodules;
Type III Neurofibromatosis is characterized by the development of:
Multiple neurofibromas in hypoderma without Lish’s nodules;
Bilateral neuromas of auditory nerve;
Intraocular tumor of retina;
Palmar neurofibromas
Multiple neurofibromas in hypoderma and Lish’s nodules;
Type IV Neurofibromatosis is characterized by the development of:
Multiple neurofibromas in hypoderma without Lish’s nodules
Bilateral neuromas of auditory nerve;
Intraocular tumor of retina;
Palmar neurofibromas;
Multiple neurofibromas in hypoderma and Lish’s nodules;
Retinoblastoma is characterized by the development of:
A.
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Multiple neurofibromas in hypoderma without Lish’s nodules;
Bilateral neuromas of auditory nerve;
Intraocular tumor of retina
Palmar neurofibromas;
Multiple neurofibromas in hypoderma and Lish’s nodules;
What smell is typical for phenylketonuria?
Smell of sweaty feet;
Mouse or fusty
Cabbage smell;
Smell of rotten fish;
Smell of hop.
What sign is typical for a glycogenosis?
Nephrocalcinosis
Red spots on a retina
Opisthotonus
Glucosuria without a hyperglycaemia
An accumulation of glycogen in internal organs, nervous system and lymphatic nodules
The action of mutant gene at monogenic pathology shows up:
Only by clinical symptoms;
On clinical, biochemical and cellular levels
Only on the particular stages of metabolism;
Only by the loss of function of protein
Does not show up clinically.
How Neurofibromatosis is diagnosed?
Clinicaly and biochemicaly
Clinicaly
Research of enzyme type
Cytological research
morphologically only
What is the etiologic factor of the monogenic inherited pathology?
Transference of a part of chromosome on another chromosome
By the change of DNA structure
By interaction of genetic and external factors
Deletion of a part of chromosome
Duplication
How Marfan syndrome is diagnosed?
Only based on patient’s complaints
Only based on anamnesis of life
based on clinical signs and family anamnesis
Only based on biochemical data
Only based on morphology data
Classification of gen illnesses is based on:
Age of patient at the onset of the disease
Sex of a sick child
Type of mutation
Type of inheritance
E.
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Character of dysmorphic signs
The diagnosis of cystic fibrosis is based on:
Biochemical hemanalysis
Data of ophthalmologic examination
sweat test
Electromyography data
Results of clinical examination
What is the typical sign of the Ehlers–Danlos syndrome?
Hyperelasticity of skin
Increased vulnerability of skin
Mental retardation
Prolaps of mitral valve
Scoliosis
What is it Ehlers-Danlos syndrome?
Inherited defect of bone tissue
Inherited defect of mucose tissue
Inherited defect of nervous tissue
Inherited defect of muscle tissue
Inherited defect of connective tissue
At the Ehlers-Danlos syndrome there are primary or secondary disorders of…:
nervous system only
Cardiovascular system only
skin and joints only
all organs and systems, except for central nervous system
all organs and systems
At the Ehlers-Danlos syndrome there are the following changes of digestive system:
Gastroptosis
Spastic colitis
Dyspancreatism
Chronic hepatic insufficiency
Gallstone disease
At the Ehlers-Danlos syndrome there are the following changes of heart:
Ventricular septal defect
Atrial septal defect
Prolaps of mitral valve
Patent ductus arteriosus
Mitral stenosis
What does medical genetics study?
The basic laws of heredity of the organism.
Basic laws of variation of the organism.
The basic laws of heredity and variation of the body
The nature of different diseases.
The prevention of hereditary diseases.
What is the main aim the medical genetics?
Study of inheritance.
Examine the role of heredity in human pathology.
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Develop methods for diagnosis of hereditary diseases.
Treat and prevent hereditary diseases.
All of the above
Which section of medical genetics determines the prognosis for posterity?
Clinical Genetics
Cytological genetics
Molecular genetics.
Genetics of development.
Population genetics.
The main sections of medical genetics are all of the above, except of:
Biochemical Genetics.
Immunological Genetics.
Study of the human genome.
Ultrasound diagnostic
Genetics of development.
Which section of medical genetics is used for making correct diagnosis, adequate treatment and
prevention of hereditary diseases?
Biochemical Genetics
Immunological Genetics
Study of the human genome.
Clinical Genetics
Genetics of development
To what type of metabolic error does Alactasia belong to?
Protein metabolism
Lipid metabolism
Carbohydrate metabolism
mucopolysaccharides metabolism
Vitamin metabolism
The diagnostic data for hereditary diseases include everything, except for:
Genetic history
Disembriogenetic signs
Low weight at birth
Epidemiological history
Peculiarities of dermatoglyphics
Marfan's 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
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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
the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment
the genetic constitution of an individual organism
Right answer is absent
What does the term Genotype mean?
Habitus (general constitution) of the patient
Right answer is absent
the genetic constitution of an individual organism
the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment
the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
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What does the term Karyotype mean?
Habitus (general constitution) of the patient
the number and visual appearance of the chromosomes in the cell nucleus of human body or any alive
organism
the genetic constitution of an individual organism
the set of observable characteristics of an individual resulting from the interaction of its genotype
with the environment
Right answer is absent
What do the terms Sibs or Siblings mean?
The family proband
children having one or both parents in common
Family probands who personally examined by a doctor, geneticist
Family mother
Family father
Which symptoms are not typical for autosomal recessive type of inheritance?
The disease occurs equally in men and women
affected parents can have healthy children
Parents of patient are clinically (by phenotype) healthy
The parents are blood relatives.
The more children in the family, the more children are affected
What does not typical for X-linked dominant type of inheritance?
The disease occurs equally in men and women
Sons of affected father will be healthy
The risk gave birth to affected child, regardless of sex, in affected mother consists 50 %
The disease can be diagnosed in every generation
Daughters of affected father will be also affected
What does not typical for X-linked recessive type of inheritance?
The disease occurs mainly in men
All phenotypically healthy daughters of males are carriers
affected men transmit the pathological allele to 50 % of sons
affected boy may has affected brothers and uncles in the case of inheritance from carrier mother
Healthy males do not transmit disease
What does not typical for mitochondrial inheritance?
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
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…
X-linked recessive type of inheritance
Autosomal recessive type of inheritance
Autosomal dominant with incomplete penetrance
Cytoplasmic inheritance
X-linked dominant type of inheritance
What does the term arachnodactylia mean?
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abnormal long fingers and toes
abnormal thick fingers and toes
abnormal number of fingers and toes
Congenital connected fingers or toes
Cutaneous fold between fingers or toes
Modern classification of chromosomes takes to a count different distinctive features of chromosomes,
except:
intensity of colouring
The speciality of cross-striation in distinctive colouring
The size of the centromere
Placement of the centromere
Length of the chromosome’s arms
What does term Acrocentric chromosome mean?
the chromosome with terminal placing of centromeres
the chromosome with central placing of centromeres, and length of the chromosome’s arms are equal
the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal
the
chromosome with two centromeres
the chromosome without centromere
What does term Metacentric chromosome mean?
the chromosome with terminal placing of centromeres
the chromosome with central placing of centromeres, and length of the chromosome’s arms are equal
the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal
the
chromosome with two centromeres
the chromosome without centromere
What does term Submetacentric chromosome mean?
the chromosome with terminal placing of centromeres
the chromosome with central placing of centromeres, and length of the chromosome’s arms are equal
the chromosome with lateral placing of centromeres, and length of the chromosome’s arms are
unequal
the
chromosome with two centromeres
the chromosome without centromere
What does term Disomia 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?
A.
B.
C. *
D.
E.
205.
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B.
C.
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206.
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B.
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207.
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208.
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209.
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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?
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
211.
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212.
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213.
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214.
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215.
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216.
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217.
A.
B.
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D.
E.
218.
A. *
B.
C.
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?
43
45
46
47
48
With any form of variability due to the difference between identical twins reared in different
conditions:
Different genotypes
Modification
Phenotype
Combinativity
Genotype
The predisposition to diseases caused by:
Genotype
Environment
Lifestyle
D.
E.
219.
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B.
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D.
E.
220.
A.
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221.
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D.
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222.
A. *
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D.
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223.
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D.
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224.
A.
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D.
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225.
A.
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D.
E.
226.
A.
Risk factors
Habits
What does term Mutation mean?
Sudden unexpected changes in individual genotype
Directional heritable changes occurring under the influence of environment
Changes occurring under the influence of smoking
Changes occurring under the influence of alcohol abuse
Changes occurring under the influence of drug abuse
How does too little mouth named?
Micrognathia
Micromelia
Microstomia
Miсrokoria
Sinfriz
What does develop due to teratogen?
Gene mutation
Aneuploidy
Structural alterations of chromosomes
Phenocopies
Gene copies
In what groups do human chromosomes classified on by size and position of centromere?
A, B, C, D, E, F, G
1, 2, 3, 4
The first, the second, the third, the fourth
A, B, C
I, II, III, IV, V
Which chromosomes do belong to the group F?
Large mediacentric
Small mediacentric
Middle acrocentric
Middle submediacentric
Large submediacentric
What is a cause monogenic disease?
Disorder of amount of chromosomes
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
Right answer is absent
What is cause of monogenic diseases?
Disorder of amount of chromosomes
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
Right answer is absent
What is it multifactorial disease?
Disorder of amount of chromosomes
B.
C.
D. *
E.
227.
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D.
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228.
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229.
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230.
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231.
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232.
A. *
B.
C.
D.
E.
233.
Disorder of structure of chromosomes
Disorder of structure of one gene
Simultaneous disorder in the structure of several genes
Right answer is absent
Which method does use for the study of genetic and environmental factors?
Clinic genealogy
Genetic
Microbiological
Cytological
Twin study
Which chromosomes belong to the group G?
Large acrocentric
Small acrocentric
Small metacentric
Middle metacentric
Large submetacentric
In what cells does the haploid number of chromosomes contained?
Neurons
Hepatocytes
Zygotes
Gametes
Epithelial
How does the programmed death of a cell called?
Apoptosis
Necrosis
Degeneration
Chromatolisis
Mutation
In what stage does Colchicine stop the dividing of a cell in vitro?
Anaphase
Prophase
Metaphase
Telophase
Right answer is absent
What term Metaphase mean?
the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
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
the first stage of cell division, during which the chromosomes become visible as paired chromatids
and the nuclear envelope disappears
the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
Right answer is absent
What does term Telophase mean?
A.
B. *
C.
D.
E.
234.
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D.
E.
235.
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B.
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236.
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237.
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B.
C.
D.
E.
238.
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B.
the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
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
the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears
the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
Right answer is absent
What does term Prophase mean?
the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
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
the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears
the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
Right answer is absent
What does term Anaphase mean?
the second stage of cell division, between prophase and anaphase, during which the chromosomes
become attached to the spindle fibers
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
the first stage of cell division, before metaphase, during which the chromosomes become visible as
paired chromatids and the nuclear envelope disappears
the stage of meiotic or mitotic cell division in which the chromosomes move away from one another
to opposite poles of the spindle
Right answer is absent
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
C.
D.
E.
239.
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240.
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241.
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243.
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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
Myocytes
Neurons
Hepatocytes
Epithelial cells
What examination will be helpful for confirming the diagnosis of phenylketonuria in a new-born
child after five days of life?
Determination protein in a blood
Apt’s test
Gatri’s test
Determination of chlorides in sweat
Sulkovich’s test
What method will be helpful for the diagnostics of Phenylketonuria in a new-born child?
Determination protein in a blood
Apt’s test
Felling’s test
Determination of chlorides in sweat
Sulkovich’s test
245.
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252.
A.
B.
What disease doctor can suspect in the baby with mental retardation and mouse-like smell of sweat?
Galactosemia
Down’s disease
Edvard’s syndrome
«Cat-like scream» syndrome
Phenylketonuria
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
uniparental disomy
mitochondrial inheritance
anticipation
X-linked recessive inheritance
X-linked dominant inheritance
What organs are more frequently involved in a process at mitochondrial pathology:
Nervous system.
Organs of sight.
Heart.
Somatic muscles.
All mentioned above.
Type of inheritance of mitochondrial DNA:
From mothers to daughters.
From mothers to sons.
From mothers to daughters and sons.
Paternal type.
All mentioned.
At mitochondrial diseases most often are affected:
Brain.
Kidneys.
Hypothalamus.
Thyroid gland.
Pancreas.
The involvement of brain at mitochondrial diseases shows up :
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.
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D.
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253.
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254.
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B.
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255.
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256.
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257.
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258.
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B.
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259.
A.
B.
C.
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260.
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.
Ache in calf muscles.
The early sign of MERRF syndrome is:
Perceptive deafness.
Disorder of vibratory.
Disorder of kinesthesia.
Moderate signs of myopathy.
Memory loss.
The early sign of MERRF syndrome is:
A.
B.
C.
D.
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261.
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C.
D.
E.
262.
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C.
D.
E.
263.
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B.
C.
D.
E.
264.
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B.
C.
D.
E.
265.
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B.
C.
D.
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266.
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C.
D.
E.
267.
A.
B.
C. *
D.
Perceptive deafness.
Disorder of vibratory.
Disorder of kinesthesia.
Moderate signs of myopathy.
Attention deficit.
The late sign of MERRF syndrome is:
Perceptive deafness.
Rapid fatigability during the physical activity..
Ache in calf muscles.
Worsening of memory.
Attention deficit.
The late sign of MERRF syndrome is:
Generalized tonic-clonic cramps.
Rapid fatigability during the physical activity..
Ache in calf muscles.
Worsening of memory.
Attention deficit.
The late sign of MERRF syndrome is:
Moderate signs of myopathy.
Rapid fatigability during the physical activity.
Ache in calf muscles.
Worsening of memory.
Attention deficit.
The late sign of MERRF syndrome is:
Disorder of vibratory.
Rapid fatigability during the physical activity.
Ache in calf muscles.
Worsening of memory.
Attention deficit.
The late sign of MERRF syndrome is:
Disorder of kinesthesia.
Rapid fatigability during the physical activity.
Ache in calf muscles.
Worsening of memory
Attention deficit.
Most typical symptom complex at the MERRF syndrome includes:
Perceptive deafness and neurological disorders.
Progressive myoclonus-epilepsy which includes a myoclonus.
Sensorial disorders and deafness.
Тonic-clonic cramps and attention deficit.
All is correct
A myoclonus at the MERRF syndrome is predetermined by involving in the pathological process of:
CNS and dementia.
CNS and аtaxia.
CNS, ataxia, dementia.
Ataxia and dementia.
E.
268.
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B.
C.
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E.
269.
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B.
C.
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E.
270.
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B.
C.
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E.
271.
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B.
C.
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272.
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B.
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273.
A.
B.
C.
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E.
274.
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B.
C.
D.
E.
275.
A. *
B.
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.
C.
D.
E.
276.
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B.
C.
D.
E.
277.
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B.
C.
D.
E.
278.
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B.
C.
D.
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279.
A.
B.
C.
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E.
280.
A.
B.
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D.
E.
281.
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B.
C.
D.
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282.
A.
B.
C. *
D.
E.
283.
Muscle pain.
Neurological symptoms.
Fever.
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:
A. *
B.
C.
D.
E.
284.
A.
B.
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D.
E.
285.
A.
B.
C. *
D.
E.
286.
A.
B.
C. *
D.
E.
287.
A.
B.
C.
D. *
E.
288.
A.
B.
C.
D.
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289.
A. *
B.
C.
D.
E.
290.
A.
B. *
C.
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.
Atrio-ventricular blockade of heart.
Incomplete blockade of His’ bundle.
Ventricular blockade.
The most informing source for the exposure of mitochondrial mutations is:
Skin.
Mucous membranes.
Muscles.
Blood.
Spinal cord.
Age of manifestation of the MELAS syndrome:
Before 20 years.
Before 30 years.
Before 40 years.
Before 50.
Before 60.
At the MELAS syndrome the headache is:
Permanent.
Expressed.
Moderate.
Migraine-like.
Paroxysmal.
Differential diagnostics of MELAS syndrome is made with the following diseases
Ley’s syndrome.
Organic acidaemias.
Homocystinuria.
Fabri’s syndrom.
All mentioned above.
The following diet is prescribed at the Kerns-Seir syndrom:
Low carbohydrate.
Low protein.
Hypoallergic.
Low fat.
Low vitamin.
Refractory sideroblastic anemia with vacuolization of cells of bone marrow and exocrine disfunction
of pancreas is known under the name of the following syndrome:
Kerns-Seir’s.
Pirson’s.
MERRF.
D.
E.
291.
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B.
C.
D.
E.
292.
A.
B.
C.
D. *
E.
293.
A.
B.
C. *
D.
E.
294.
A. *
B.
C.
D.
E.
295.
A.
B.
C. *
D.
E.
296.
A. *
B.
C.
D.
E.
297.
A. *
B.
C.
D.
E.
MELAS.
Leber’s.
Pigmented retinitis, progressive external ophthalmoplegia, complete heart block are known as a
following syndrome:
Kerns-Seir’s.
Pirson’s.
MERRF.
MELAS.
Leber’s.
Mitochondrial encephalopathy, lacto acidosis, stroke-like episodes are the manifestation of the
following syndrome:
Kerns-Seir’s.
Pirson’s.
MERRF.
MELAS.
Leber’s.
Myoclonus-epilepsy is known under the name of the following syndrome:
Kerns-Seir’s.
Pirson’s.
MERRF.
MELAS.
Leber’s.
What phenotypic transformation of Pirson’s syndrome is possible:
Kerns-Seir.
Pirson’s.
MERRF.
MELAS.
Leber’s.
What is not useded for the treatment of mitochondrial disease :
Thiamine.
Tocopherol.
Prednisolone.
Riboflavin.
Lipoic acid.
Which one belongs to the indirect methods of prenatal diagnostics?
Clinical examination.
Ultrasound.
ЕКG.
X-ray.
Fetoscopy.
Which one belongs to the indirect methods of prenatal diagnostics?
Microbiological examination.
Ultrasound.
ЕКG.
X-ray.
Fetoscopy.
298.
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D.
E.
299.
A.
B.
C. *
D.
E.
300.
A.
B.
C. *
D.
E.
301.
A.
B. *
C.
D.
E.
302.
A.
B.
C.
D. *
E.
303.
A.
B. *
C.
D.
E.
304.
A. *
B.
C.
D.
E.
305.
A.
B. *
C.
Which one belongs to the indirect methods of prenatal diagnostics?
Ultrasound.
Medical genetic research.
ЕCG.
X-ray.
Fetoscopy.
Which one belongs to the indirect methods of prenatal diagnostics?
ЕCG.
Ultrasound.
Analysis of specific embryonic albumens.
X-ray.
Fetoscopy.
Which one belongs to the indirect methods of prenatal diagnostics?
ЕCG.
Ultrasound.
Analysis and DNA-analysis of embryonic erythroblast from blood of pregnant.
X-ray.
Fetoscopy.
Which one belongs to the direct methods of prenatal diagnostics?
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.
D.
E.
306.
A.
B.
C.
D. *
E.
307.
A.
B.
C. *
D.
E.
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:
25-30 weeks.
10-15 weeks.
15-22 weeks.
16-25 weeks.
22-25 weeks.