Download 49 What is the etiologic factor of the monogenic inherited pathology?

Modul Medical genetics
Tests
1
A
B
C
D
E
What food is eliminated from the ration of patients with phenylketonuria?
Animal proteins
Fruits
Cereal products
Vegetables
Olive oil
ANSWER: A
2
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.
ANSWER: C
3
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.
ANSWER: C
4
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.
ANSWER: B
5
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.
ANSWER: B
6
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
ANSWER: B
7
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 pathomorphology examination
ANSWER: C
8
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.
ANSWER: C
9
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
ANSWER: E
10 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;
E By the mutation of one gene
ANSWER: E
11 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 valvular heart-disease;
C By the transposition of main vessels;
D By myocardial infection;
E By the vascular dystonia
ANSWER: A
12 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
ANSWER: E
13 What changes in skeleton is typical for the Marfan syndrome?
A Rounded face;
B Arachnodactyly
C Short extremities;
D Small stature;
E Acromegalia.
ANSWER: B
14 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.
ANSWER: C
15 What changes in organ of vision is typical for the Marfan’s syndrome, except for?
A Spherephakia;
B Subluxation;
C Retinal detachment;
D Cataract
E Flattening of cornea.
ANSWER: D
16 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.
ANSWER: C
17 Reproductive function at the Marfan syndrome:
A Is absent;
B Is normal
C Sharply depressed;
D Hypogonadism;
E Hermaphroditism.
ANSWER: B
18 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
ANSWER: E
19 The medicine of choice for treatment of innate hypothyroidism is:
A mercasolil
B prednisolon
C thyroxin
D мetisol
E imidazole
ANSWER: C
20 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
ANSWER: A
21 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
ANSWER: A
22 What is typical for an innate hypothyroidism?
A large birth weight
B small birth weight
C frequent diarrhea
D agitation
E innate malnutrition
ANSWER: A
23 What is typical for an innate hypothyroidism?
A Constipation
B diarrhea
C early falling off of umbilical remain
D innate malnutrition
E agitation
ANSWER: A
24 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
ANSWER: D
25 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
ANSWER: E
26 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
ANSWER: E
27 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 enviroment factors
ANSWER: B
28 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
E contingency
ANSWER: C
29 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
ANSWER: D
30 Which method is used for the study of genetic and environmental factors?
A Clinic genealogy
B Genetic
C Microbiological
D Cytological
E Twin study
ANSWER: B
31 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
ANSWER: B
32 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
ANSWER: B
33 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
D Determines appearance of gene copies
E Affects DNA
ANSWER: C
34 What cells do not contain 46 chromosomes:
A Gametes
B Myocytes
C Neurons
D Hepatocytes
E Epithelial cells
ANSWER: A
35 Trisomy 18 is:
A Down syndrome;
B Patau syndrome;
C Edward syndrome
D Mosaicism;
E Syndrome of «cat-like scream»;
ANSWER: C
36 Trisomy 21 is:
A Down syndrome
B Patau syndrome;
C Edward syndrome;
D Mosaicism;
E Syndrome of «cat-like scream»
ANSWER: A
37 Trisomy 13 is:
A Down syndrome;
B Patau syndrome
C Edward syndrome;
D Mosaicism;
E Syndrome of «cat-like scream»;
ANSWER: B
38 Partial monosomy of 5th chromosome is:
A Down syndrome;
B Patau syndrome;
C Edward syndrome;
D Mosaicism;
E Syndrome of «cat-like scream»
ANSWER: E
39 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
ANSWER: C
40 What is typical for chromosomal diseases?
A Lag in mental development
B Presence of telangiectasias on a skin;
C Unusual color of skin;
D Unusual color and smell of feces;
E Large height.
ANSWER: A
41 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 Large height.
ANSWER: D
42 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
ANSWER: B
43 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
ANSWER: C
44 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
ANSWER: C
45 What food that is eliminated from the ration of patients with galactosemia?
A Animal protein
B Cow milk
C Cereal products
D Vegetables
E Legumes
ANSWER: B
46 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.
ANSWER: C
47 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.
ANSWER: B
48 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.
ANSWER: B
49 What is the etiologic factor of the monogenic inherited pathology?
A Transference of a part of chromosome on another chromosome
B change of DNA structure
C interaction of genetic and external factors
D Deletion of a part of chromosome
E Duplication
ANSWER: B
50 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
ANSWER: D
51 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
ANSWER: C
52 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.
ANSWER: C
53 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
ANSWER: E
54 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.
ANSWER: A
55 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.
ANSWER: D
56 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
ANSWER: D
57 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
ANSWER: C
58 The diagnostic data for hereditary diseases include everything, except for:
A Genetic history
B Disembriogenetic signs
C Low weight at birth
D Epidemiological history
E Peculiarities of dermatoglyphics
ANSWER: D
59 Marfan syndrome belongs to:
A Anomalies of autosomes
B Metabolism of proteins
C Syndrome of partial deletions of autosomes
D Disturbances of lipid metabolism
E Disturbances of synthesis fibrilin
ANSWER: E
60 Mucopolysaccharidosis belongs to:
A Anomalies of autosomes
B Metabolism of proteins
C Syndrome of partial deletions of autosomes
D Ancestral pigment hepatosis
E Metabolic mucopolysaccharides
ANSWER: E
61 Galaсtosemia applies to violations of:
A Protein metabolism.
B Lipid metabolism.
C Carbohydrate metabolism
D Exchange mucopolysaccharides.
E Vitamin metabolism.
ANSWER: C
62 Phenylketonuria belongs to errors of:
A Protein metabolism.
B Lipid metabolism.
C Carbohydrate metabolism.
D methionine metabolism
E mucopolysaccharides metabolism
ANSWER: A
63 What are the objects of study of clinical genetics?
A Sick people
B Sick people and their relatives
C The patient and all members of his family along with the healthy
D Infertile women
E Infertile men
ANSWER: C
64 What is it “the congenital (initiated)” disease?
A Disease caused by mutation of genes
B Disease caused by negative environmental factors
C Disease that manifested at birth
D not curable diseases
E None of the above
ANSWER: C
65 What does the term Proband mean?
A A sick child whose parents go to a doctor
B A healthy child whose parents contacted the medical and genetic counseling
C a person serving as the starting point for the genetic study of a family
D The child who first came under the supervision of a physician-geneticist
E Newborn
ANSWER: C
66 What does the term Phenotype 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 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
ANSWER: C
67 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
ANSWER: C
68 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
ANSWER: C
69 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
ANSWER: B
70 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
ANSWER: B
71 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
ANSWER: A
72 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
ANSWER: C
73 What does not typical for mitochondrial inheritance?
A The disease is transmitted only by mothers
B Boys can be affected
C Girls can be affected
D Affected men do not transmit disease
E Affected women transmit the disease 50 % of children
ANSWER: E
74 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
ANSWER: B
75 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
ANSWER: A
76 What does term Disomy mean?
A the condition of having a chromosome represented twice in a chromosomal complement
B the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
C a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
D the property or state of being composed of cells of two genetically different types
E presence a few chromosomes
ANSWER: B
77 What does term Monosomy mean?
A the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
B the condition of having a chromosome represented twice in a chromosomal complement
C a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
D the property or state of being composed of cells of two genetically different types
E presence a few chromosomes
ANSWER: A
78 What does term Trisomy mean?
A the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
B the condition of having a chromosome represented twice in a chromosomal complement
C a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
D the property or state of being composed of cells of two genetically different types
E presence a few chromosomes
ANSWER: C
79 What does term Mosaicism mean?
A the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
B the condition of having a chromosome represented twice in a chromosomal complement
C a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
D the property or state of being composed of cells of two genetically different types
E presence a few chromosomes
ANSWER: D
80 What does term Polysomy mean?
A the condition of having a diploid chromosome complement in which one (usually the X) chromosome
lacks its homologous partner
B the condition of having a chromosome represented twice in a chromosomal complement
C a condition in which an extra copy of a chromosome is present in the cell nuclei, causing
developmental abnormalities
D the property or state of being composed of cells of two genetically different types
E presence a few chromosomes
ANSWER: E
81 What cellular structures are carriers of hereditary information?
A Ribosomes
B Membranes
C Chromosomes
D Lysosomes
E Endoplasmic reticulum
ANSWER: C
82 What is Sexual chromatin?
A Chromatin of sex cells
B Chromatin of somatic cells
C Helical inactive X chromosome
D active chromosome
E Right answer is absent
ANSWER: C
83 What is the different between male and female karyotype?
A The number of chromosomes
B The number of autosomes
C The number of sex chromosomes
D Quality and format of sex chromosomes
E Quality and format of autosomes
ANSWER: D
84 What is autosome?
A Asexual cell
B Any chromosome that is not a sex chromosome
C Sex chromosome
D A set of human chromosomes
E A set of genes of an organism
ANSWER: B
85 Why dizygotic twins are not identical?
A Due to different genotypes
B Due to the influence of the environment
C Due to different karyotypes
D Due to different genotypes and the influence of the environment
E No differences
ANSWER: D
86 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
ANSWER: C
87 The predisposition to diseases caused by:
A Genotype
B Environment
C Lifestyle
D Risk factors
E Habits
ANSWER: A
88 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
ANSWER: A
89 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
ANSWER: B
90 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
ANSWER: C
91 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
ANSWER: D
92 Which method does use for the study of genetic and environmental factors?
A Clinic genealogy
B Genetic
C Microbiological
D Cytological
E Twin study
ANSWER: B
93 In what cells does the haploid number of chromosomes contained?
A Neurons
B Hepatocytes
C Zygotes
D Gametes
E Epithelial
ANSWER: D
94 How does the programmed death of a cell called?
A Apoptosis
B Necrosis
C Degeneration
D Chromatolisis
E Mutation
ANSWER: A
95 What does term Chromosomal mutations mean?
A Change of number of chromosomes
B Change of chromosome structure, distinguished through a light microscopy
C Transfer of centromere along the chromosome
D Disbalance with heterochromatin
E Right answer is absent
ANSWER: B
96 What does term Genome mutation mean?
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 Loss of chromosomes in meiosis
ANSWER: B
97 What does term Teratogen mean?
A Affects DNA, creating inheritable changes in it
B Causes changes in chromosomal complex
C an agent or factor that causes malformation of an embryo
D Determines appearance of gene copies
E Causes functional disorders of pregnancy
ANSWER: C
98 What cells don’t contain 46 chromosomes?
A Gametes
B Myocytes
C Neurons
D Hepatocytes
E Epithelial cells
ANSWER: A
99 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.
ANSWER: A
100 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.
ANSWER: C