1What Food Is Eliminated from the Ration of Patients with Phenylketonuria?

Medical genetics

Tests

1What food is eliminated from the ration of patients with phenylketonuria?

A*Animal proteins

BFruits

CCereal products

DVegetables

EOlive oil

2What food is eliminated from the ration of patients with galactosemia?

AAnimal protein

B*Cow milk

CCereal products

DVegetables

ELegumes

3Name 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:

AHomocystinuria;

BHypophosphatasia;

C*Phenylketonuria;

DCystinuria;

EGalactosemia.

4What smell is typical for phenylketonuria?

ACabbage smell;

BSmell of sweaty feet;

C*Mouse or fusty;

DSmell of rotten fish;

ESmell of hop.

5What symptom is typical for a glycogenosis?

ANephrocalcinosis;

BB.Red spots on a retina;

CC.Opisthotonos;

DGlucosuria without a hyperglycaemia;

E*An accumulation of glycogen in internal organs, nervous system and lymphatic nodules.

6What symptom is typical for Niemann–Pick disease?

ANephrocalcinosis;

B *Red spots on a retina;

Copisthotonos

DGlucosuria without a hyperglycaemia;

EAn accumulation of glycogen in internal organs, nervous system and lymphatic nodules.

7Laboratory findings that are the characteristic for Niemann–Pick disease:

A*A presence of specific cells in puncture sample of bone marrow, spleen

BGlucosuria

CAbsence of increase of glycemia after the lactose loading

DPositive Gatri’s test

EPositive Sulkovich’s test

8Laboratory finding that is typical for phenylketonuria:

AA presence of specific cells in puncture sample of bone marrow, spleen

BGlucosuria

CAbsence of increase of glycemia after the lactose loading

D*Positive Gatri’s test

EPositive Sulkovich’s test

9The action of mutant gene at monogenic pathology shows up:

AOnly by clinical symptoms;

B*On clinical, biochemical and cellular levels

COnly on the particular stages of metabolism;

DOnly by the loss of function of protein

EDoes not show up clinically.

10Neurofibromatosis is diagnosed on the basis of:

AClinical and biochemical data;

B*Clinical presentation

CResearch of enzyme type;

DCytological research;

EPathomorphologically only.

11The etiologic factor of the monogenic inherited pathology is:

ATransference of a part of chromosome on another chromosome;

B* the change of DNA structure

CBy interaction of genetic and external factors

DDeletion of a part of chromosome;

EDuplication

12Basis for the diagnosis of Marfan syndrome is:

AOnly complaints of patient;

BOnly information of domestic anamnesis;

C*Characteristic set of clinical signs

DBiochemical data;

EData of pathomorphologycal examination

13Classification of gene illnesses is possible on the basis of:

AAge of patient at the onset of the disease;

BSex of a sick child;

CType of mutation;

D*Type of inheritance

ECharacter of dysmorphic signs

14The diagnosis of cystic fibrosis is based on:

ABiochemical analysis;

BData of ophthalmologic examination;

C*Sodium and chlorine content in a sweat

DElectromyography data;

EResults of nonclinic diagnostic measures.

15What is not the characteristic sign of the Ehlers-Danlos Syndrome?

AHyperelasticity of skin;

BIncreased vulnerability of skin;

C*Mental retardation

DProlaps of mitral valve;

EScoliosis.

16The Ehlers-Danlos syndrome is:

AInherited defect of bone tissue;

BInherited defect of epithelial tissue;

CInherited defect of nervous tissue;

DInherited defect of muscle tissue;

E*Inherited defect of connective tissue

17How many forms of Ehlers-Danlos syndrome are identified in nowadays?

A5;

B*10

C8;

D3;

E12.

18Bleeding at the Ehlers-Danlos syndrome is not caused:

ABy the defect of vascular wall as a result of anomalousness of collogen;

BBy the decrease of ability of collogen to predetermine аaggregation of thrombocytes;

CBy the decrease of adhesiveness of thrombocytes;

DBy the decrease of pulse wave speed as a result of decline of vascular wall elasticity.

E*By the decrease of number of thrombocytes

19At the Ehlers-Danlos syndrome there are primary or secondary disorders:

AOnly of nervous system;

BOnly of cardiovascular system;

COnly of skin and joints;

DOf all organs and systems, except for central nervous system

E*Of all organs and systems

20At the Ehlers-Danlos syndrome there are such changes of CNS:

A*Aneurisms of brain vessels

BAnomalies of brain tunics;

CHydrocephaly;

DAnomalies of cranial nerves;

ESpinal hernia.

21At the Ehlers-Danlos syndrome there are the following changes of digestive system:

AGallstone disease;

BSpastic colitis;

CDyspancreatism;

DChronic hepatic insufficiency;

E*Gastroptosis;

22At the Ehlers-Danlos syndrome there are the following changes of heart:

AVentricular septal defect.

BAtrial septal defect.

C*Prolaps of mitral valve

DPatent ductus arteriosus.

EMitral stenosis.

23What deformations of joints are typical for Ehlers-Danlos syndrome?

A*Hyperextension of interphalangeal joints

BContractures of knee-joints

CArthralgia

DFusiform deformation of elbows

EAn increase in joints’ volume

24What deformation of the thorax is typical for Ehlers-Danlos syndrome?

AKeeled chest

BBarrel chest

C*Flat back

DDeformations of collar-bones and ribs

ERachitic rosary

25The following change of urinary system takes place in patients with the Ehlers-Danlos syndrome:

AOxaluria;

BUraturia;

CProteinuria;

D*Nephroptosis

ELeukocyturia.

26Gene diseases are caused:

ABy the change of the amount of autosomes;

BBy the loss of the part of chromosome;

CDuplication of part of chromosome;

DD.By the loss of two and more genes;

E*By the mutation of one gene

27What syndrome is not considered as pathology of connective tissue?

A*Down syndrome;

BMarfan syndrome;

CEhlers-Danlos syndrome

DMucopolysaccharidosis ;

EUnaccomplished osteogenesis.

28The involvement of cardiovascular system at the Marfan syndrome to 40 years of age shows up:

A*By aneurysm of aorta

BBy forming of mitral valve heart-disease;

CBy the transposition of main vessels;

DBy myocardial infection;

EBy the vascular dystonia

29What heart defect is typical for the Marfan syndrome in childhood?

AAortic stenosis;

BForming of mitral defect of a heart;

CTransposition of main vessels;

DMyocardial infarction;

E*Prolaps of mitral valve

30What changes in skeleton is typical for the Marfan syndrome?

ARounded face;

B*Arachnodactyly

CShort extremities;

DSmall stature;

EAcromegalia.

31What changes of skeleton is typical for the Marfan syndrome?

AShort bones of extremities;

BSalient chin;

C*Predominance of height of body above mass

DPredominance of mass of body above height;

EAcromegalia.

32What changes in organ of vision is typical for the Marfan syndrome, except for?

ASpherephakia;

BSubluxation;

CRetinal detachment;

D*Cataract

EFlattening of cornea.

33The involvement of the pulmonary system shows up at the Marfan syndrome:

ABy bronchitis;

BBy pneumosclerosis;

C*By spontaneous pneumothorax

DBy the pulmonary atelectasis ;

EBy frequent pleuritis.

34The involvement of the central nervous system shows up at Marfan syndrome:

ABy meningitis;

BBy encefalitis;

C*Lumbar-coccygeal meningocele

DBy hydrocranium;

EBy encephalopathy.

35Reproductive function at the Marfan syndrome:

AIs absent;

B*Is normal

CSharply depressed;

DHypogonadism;

EHermaphroditism.

36After what age the changes of CNS resulting from the innate hypothyroidism become irreversible in the absence of treatment :

A2-4 weeks of life

B*4-6 weeks life

C6-10 weeks life

D10-12 weeks life

E12-14 weeks life

37Manifestation of mild variants of innate hypothyroidism can take a place in age of:

Afrom the moment of birth

B*2-5 years

C6-7 years

D7-10 years

Ein adults

38Manifestation of mild variants of innate hypothyroidism may take place in the age:

Afrom the moment of birth

B6-8 years

C8-10 years

D*in the period of puberty

Eadult

39Thyroid gland in the absolute majority of children with an innate hypothyroidism:

Ais not changed

Btuberous (knobby)

Csmooth

Dhyperplastic

E*hypoplastic

40The medicine of choice for treatment of innate hypothyroidism is:

Amercasolil

Bprednisolon

C*thyroxin

Dмetisol

Eimidazole

41What is typical for an innate hypothyroidism?

A*prolonged jaundice

Bincomplete pregnancy

Cdeficit of weight according to the gestation age

Ddiarrhea

Eearly falling off of umbilical remain

42The following method is used for the confirmation of diagnosis of innate hypothyroidism:

AUltrasound examination of thyroid gland

BDetermination of thyrotrophic hormones levels in mother

CDetermination of autoantibodies in the mother’s blood

DDetermination of thyrotrophic hormones levels in a child*

EPuncture biopsy of thyroid

43What is typical for an innate hypothyroidism?

Aprolonged pregnancy*

Bincomplete pregnancy

Cinnate malnutrition

Ddiarrhea

Eearly falling off of umbilical remain

44What is typical for an innate hypothyroidism?

Abirth overweight*

Bbirth weight deficits

Cfrequent diarrhea

Dagitation

Einnate malnutrition

45What is typical for an innate hypothyroidism?

AConstipation*

Bdiarrhea

Cearly falling off of umbilical remain

Dinnate malnutrition

Eagitation

46What hormones levels are typical for an innate hypothyroidism?

Adecline of T4 level, increase of T3 level

Bincrease of T4 level, decline of T3 level

Cdecline of level of T4, T3, TSH(thyroid stimulating hormone)

Ddecline of level of T4, T3 and increase of level of TSH*

Eincrease of level of T4, T3, TSH

47What is not a subject of study of medical genetics?

ACauses of origin of the inherited diseases of human

BCharacter of inheritance by descendants

CPrevalence of the inherited diseases in population

DSpecific 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

48Centromere is:

AMeasure of body

BA structure at the end of a shoulder of chromosome

CPericentral part of chromosome

DSatellite

E*Chromosomal strangulation, dividing a chromosome into two parts

49Pathologically small mouth is described as a:

AMicrognathia

BMicromelia

C*Microstomia

DMiсrokoria

ESinfriz

50What develops as a result of action of teratogens:

A*Gene mutations

BAneuploidy

CStructural alterations of chromosomes

DPhenocopies

EGene copies

51At what period of cell cycle do chromosomes acquire the doubled structure?

AG-0

BG-1

CS

DG-2

E*During mitosis

52Which chromosomes do belong to the group C?

ALarge mediacentric

BSmall mediacentric

CMiddle acrocentric

D*Middle submediacentric

ELarge submediacentric

53What chromosomes do belong to the group A?

A*Large mediacentric

BSmall mediacentric

CMiddle acrocentric

DMiddle submediacentric

ELarge submediacentric

54Which chromosomes do belong to the group B?

ALarge mediacentric

BSmall mediacentric

CMiddle acrocentric

DMiddle submediacentric

E*Large submediacentric

55Which groups of human chromosomes are classified on by size and position of centromere?

A*A, B, C, D, E, F, G

B1, 2, 3, 4

CThe first, the second, the third, the fourth

DA, B, C

EI, II, III, IV, V

56Which chromosomes do belong to the group F?

ALarge mediacentric

B*Small mediacentric

CMiddle acrocentric

DMiddle submediacentric

ELarge submediacentric

57What is a cause of chromosomal disease?

ADisorder of amount of chromosomes

B*Disorder of structure of chromosomes

CDisorder of structure of one gene

DSimultaneous disorder in the structure of several genes

Eenvironment factors

58What is the cause of monogenic diseases?

ADisorder of amount of chromosomes

BDisorder of structure of chromosomes

C*Disorder of structure of one gene

DSimultaneous disorder in the structure of several genes

Econtingency

59What is a cause of multifactorial diseases?

ADisorder of amount of chromosomes

BDisorder of structure of chromosomes

CDisorder of structure of one gene

D*Simultaneous disorder in the structure of several genes

Eonly environmental factors

60Which method is used for the study of genetic and environmental factors?

AClinic genealogy

B*Genetic

CMicrobiological

DCytological

ETwin study

61What chromosomes do belong to the group G:

ALarge acrocentric

B*Small acrocentric

CSmall metacentric

DMiddle metacentric

ELarge submetacentric

62The haploid number is contained in the following cells:

ANeurons

BHepatocytes

CZygotes

D*Gametes

EEpithelial

63The programmed death of a cell is called:

A*Apoptosis

BNecrosis

CDegeneration

DChromatolisis

EMutation

64Colchicine stops the dividing of a cell on the following stage:

AAnaphases

BProphase

C*Metaphase

DTelophase

EAll of them

65Chromosomal mutation - is:

AChange of number of chromosomes

B*Change of chromosome structure

CTransfer of centromere along the chromosome

DDisbalance with heterochromatin

ESimultaneous disorder in the structure of several genes

66Genome mutation – is a:

ADisorder of the structure of gene

B*Change of the number of chromosomes

CAccumulation of intron repetitions

DChange of structure of chromosomes

ESimultaneous disorder in the structure of several genes

67A teratogen is a factor, that:

AAffects DNA, creating inheritable changes in it

BCauses changes in chromosomal complex

C*Causes anatomic disorders of foetus

DDetermines appearance of gene copies

EAffects DNA

68What cells do not contain 46 chromosomes:

A*Gametes

BMyocytes

CNeurons

DHepatocytes

EEpithelial cells

69In case of mental retardation and mongoloid slant in a child what disease could be suspected?

AGalactosemia;

B*Down syndrome

CEdward syndrome;

DSyndrome of «cat-like scream»;

EPhenylketonuria.

70At presence of mental retardation and cleft upper lip and palate in a child it is possible to suspect:

AGalactosemia;

B*Patau syndrome

CDown syndrome;

DSyndrome of «cat-like scream»;

EPhenylketonuria.

71At presence of mental retardation together with the changes of neurocranium of face and other dismorphic signs it is possible to suspect:

AGalactosemia;

BDown syndrome;

C*Edward syndrome

DSyndrome of «cat-like scream»;

EPhenylketonuria.

72At presence of mental retardation together with moon-like face and specific voice it is possible to suspect:

AGalactosemia;

BDown syndrome;

CEdward syndrome;

D*Syndrome of «cat-like scream»

EPhenylketonuria.

73At presence of mental retardation and sexual underdevelopment in teenager it is possible to suspect:

AGalactosemia;

BDown syndrome;

CEdward syndrome;

DSyndrome of «cat-like scream»;

E*Klinefelter syndrome

74Prenatal retardation together with the changes of bones and other dismorphies in newborn child give the possibility to suspect:

AGalactosemia;

BCystic fibrosis;

C*Edward syndrome

DSyndrome of «cat-like scream»;

EPhenylketonuria.

75Trisomy 18 is:

ADown syndrome;

BPatau syndrome;

C*Edward syndrome

DMosaicism;

ESyndrome of «cat-like scream»;

76Trisomy 21 is:

A*Down syndrome

BPatau syndrome;

CEdward syndrome;

DMosaicism;

ESyndrome of «cat-like scream»

77Trisomy 13 is:

ADown syndrome;

B*Patau syndrome

CEdward syndrome;

DMosaicism;

ESyndrome of «cat-like scream»;

78Partial monosomy of 5th chromosome is:

ADown syndrome;

BPatau syndrome;

CEdward syndrome;

DMosaicism;

E*Syndrome of «cat-like scream»

79A determinant factor in differential diagnostics of chromosomal illnesses is:

AAssessment of mental development;

BAssessment of sexual development;

C*Cytogenetic research

DAssessment of physical development;

EUltrasound

80Specify the correct karyotype formula of Turner syndrome:

A*46XX/45XO

B46XX,5p-

C47XXY

D47 XY,13+

E47 XX,18+

81Specify the correct karyotype formula of Edward syndrome:

A46XX/45XO

B46XX,5p-

C47XXY

D47 XY,13+

E*47 XX,18+

82Specify the correct karyotype formula of «cat-like scream» syndrome:

A46XX/45XO

B*46XX,5p-

C47XXY

D47 XY,13+

E47 XX,18+

83Specify the correct karyotype formula of Patau syndrome:

A46XX/45XO

B46XX,5p-

C47XXY

D*47 XY,13+

E47 XX,18+

84Specify the correct karyotype formula of Down syndrome:

A46XX/45XO

B46XX,5p-

C47XXY

D47 XY,13+

E*47 XX,21+

85Specify the correct karyotype formula of Turner syndrome:

A*46XX/45XO

B46XX,5p-

C47XXY

D47 XY,13+

E47 XX,18+

86What is typical for chromosomal diseases?

A*Lag in mental development

BPresence of teleangiectasias on a skin;

CUnusual color of skin;

DUnusual color and smell of feces;

Ebiggrowth

87What is characteristic for the chromosomal diseases?

AGood mental development;

BPresence of teleangiectasias on skin;

CUnusual color of skin;

DUnusual color of eyes;

E*Plural dismorphies

88What is characteristic for the chromosomal diseases?

AGood mental development;

BPresence of teleangiectasias on a skin;

CUnusual color of skin;

D*Numerous developmental defects

Ebiggrowth

89Which pathology is present in a child with кaryotype 47 XY+21?

AKlinefelter syndrome

B*Down syndrome

CInnate hypothyroidism

DPhenylketonuria

EPatau syndrome

90What changes in skeleton is typical for the Marfan syndrome?

AShort bones of extremities

BSalient chin

CPredominance of height of body above mass*

DPredominance of mass of body above height

EAcromegalia

91What medical tactic is not applied to patients with the Marfan syndrome?

ARegular medical check-ups of narrow specialists

BLimitation of physical activity

CReplacement therapy with corticosteroids*

DPropranolol

EReconstructive cardiovascular operations

92What disease is considered to be a lysosomal storage disorder?

AHiperlipoproteinemia

BMucoviscidosis

Cmucopolysaccharidosis *

DGalactosemia

EAlbinism

93All mentioned below are clinical signs of mucopolysaccharidosis, except for:

AGigantism*

BDisproportion body-build

Cnormal mental development

DHypertrichosis

EPoor hearing

94All mentioned below are clinical signs of mucopolysaccharidosis type I, except for:

AMicrocephaly*

BDisproportion body-build

CMental retardation

DHypertrichosis

EPoor hearing

95What medical measures are not used for treatment of mucopolysaccharidosis?

ASurgical correction of heart (valvular) diseases

BSurgical correction of pathological mobility cervical vertebras

CReplacement therapy with hormones

DReplacement therapy with enzymes*

ECorrection of behavioral problems

96What group of diseases does mucopolysaccharidosis belongs to?

Alusosomal disorders*

Bmitochondrial

Cmonogenic

Dchromosomal

Emultifactorial

97Type I Neurofibromatosis is characterized by the development of:

AMultiple neurofibromas in hypoderma without Lish’s nodules;

BBilateral neuromas of auditory nerve;

CIntraocular tumor of retina;

DPalmar neurofibromas;

EMultiple neurofibromas in hypoderma and Lish’s nodules*

98Type II Neurofibromatosis is characterized by the development of:

AMultiple neurofibromas in hypoderma without Lish’s nodules;

BBilateral neuromas of auditory nerve*

CIntraocular tumor of retina;

DPalmar neurofibromas;

EMultiple neurofibromas in hypoderma and Lish’s nodules;

99Type III Neurofibromatosis is characterized by the development of:

AMultiple neurofibromas in hypoderma without Lish’s nodules;

BBilateral neuromas of auditory nerve;

CIntraocular tumor of retina;

DPalmar neurofibromas*

EMultiple neurofibromas in hypoderma and Lish’s nodules;

100Type IV Neurofibromatosis is characterized by the development of:

AMultiple neurofibromas in hypoderma without Lish’s nodules*

BBilateral neuromas of auditory nerve;

CIntraocular tumor of retina;

DPalmar neurofibromas;

EMultiple neurofibromas in hypoderma and Lish’s nodules;

101Retinoblastoma is characterized by the development of:

AMultiple neurofibromas in hypoderma without Lish’s nodules;

BBilateral neuromas of auditory nerve;

CIntraocular tumor of retina*

DPalmar neurofibromas;

EMultiple neurofibromas in hypoderma and Lish’s nodules;

102What smell is typical for phenylketonuria?

ASmell of sweaty feet;

BMouse or fusty*

CCabbage smell;

DSmell of rotten fish;

ESmell of hop.

103What sign is typical for a glycogenosis?

ANephrocalcinosis

BRed spots on a retina

COpisthotonos

DGlucosuria without a hyperglycaemia

EAn accumulation of glycogen in internal organs, nervous system and lymphatic nodules*

104The action of mutant gene at monogenic pathology shows up:

AOnly by clinical symptoms;

BOn clinical, biochemical and cellular levels*

COnly on the particular stages of metabolism;

DOnly by the loss of function of protein

EDoes not show up clinically.

105How Neurofibromatosis is diagnosed?

AClinicaly and biochemicaly*

BClinicaly

CResearch of enzyme type

DCytological research

Emorphologically only

106What is the etiologic factor of the monogenic inherited pathology?

ATransference of a part of chromosome on another chromosome

BBy the change of DNA structure*

CBy interaction of genetic and external factors

DDeletion of a part of chromosome

EDuplication

107How Marfan syndrome is diagnosed?

AOnly based on patient’s complaints

BOnly based on anamnesis of life

Cbased on clinical signs and family anamnesis*

DOnly based on biochemical data

EOnly based on morphology data

108Classification of gene illnesses is based on:

AAge of patient at the onset of the disease

BSex of a sick child

CType of mutation

DType of inheritance*

ECharacter of dysmorphic signs

109The diagnosis of cystic fibrosis is based on:

ABiochemical hemanalysis

BData of ophthalmologic examination

Csweat test*

DElectromyography data

EResults of clinical examination

110What is the typical sign of the Ehlers–Danlos syndrome?

AHyperelasticity of skin*

BIncreased vulnerability of skin

CMental retardation

DProlaps of mitral valve

EScoliosis

111What is it Ehlers-Danlos syndrome?

AInherited defect of bone tissue

BInherited defect of mucose tissue

CInherited defect of nervous tissue

DInherited defect of muscle tissue

EInherited defect of connective tissue*

112At the Ehlers-Danlos syndrome there are primary or secondary disorders of…:

Anervous system only

BCardiovascular system only

Cskin and joints only

Dall organs and systems, except for central nervous system

Eall organs and systems *

113At the Ehlers-Danlos syndrome there are the following changes of digestive system:

AGastroptosis

BSpastic colitis

CDyspancreatism

DChronic hepatic insufficiency

EGallstone disease*

114At the Ehlers-Danlos syndrome there are the following changes of heart:

AVentricular septal defect

BAtrial septal defect

CProlaps of mitral valve*

DPatent ductus arteriosus

EMitral stenosis

115What does medical genetics study?

AThe basic laws of heredity of the organism.

BBasic laws of variation of the organism.

CThe basic laws of heredity and variation of the body*

DThe nature of different diseases.

EThe prevention of hereditary diseases.

116What is the main aim the medical genetics?

AStudy of inheritance.