Partial dominance
12. Two types of cells with chromosomal set 46XY and 47XXY in the equal quantity were revealed at examination of karyotype of the patient. What is the most possible diagnosis?
X-syndrome monosomia
Down’s syndrome
Normal karyotype
Klinefelter’s syndrome *
Patau’s syndrome
13. A 14-year old girl has short stature, absence of pubescence, very short neck, broad shoulders, and normal intelligence. What disease does the girl have?
Klinefelter’s syndrome
Patau’s syndrome
Edward’s syndrome
Down’s syndrome
Turner’s syndrome *
14. A 5-year old girl’s karyotype has 46 chromosomes. But one chromosome of the 15th pair is longer than normal one, since it joins chromosome from 21st pair. What type of mutation is present in the girl?
Duplication
Deletion
Inversion
Shortage
Translocation *
15. The father of a pregnant woman suffers from hemeralopia. This is an X-linked recessive disorder. Her husband’s relatives didn’t suffer from this disease. What is possibility that her child will suffer from hemeralopia, if it is a boy?
50% *
0%
75%
100%
25%
16. There is regurgitation of milk to the nose in an infant during a meal. Mark the possible reason for this disturbance?
Harelip
Fracture of basis of skull
-
Septal deformity
Cleft palate *
17. Elementary discrete unit of inheritance in both sexual and asexual reproduction is: A. One chain of DNA molecule
One gene *
One pair of nucleotides
Two chains of DNA molecule
One nucleotide
18. A 12-year-old boy has lower jaw carcinoma. What type of mutation underlies the tumor development?
Non-lethal mutation of somatic cell *
Lethal mutation of somatic cell
Non-lethal mutation of sexual cell mother or father
Non-lethal mutation of somatic cell in embryogenesis
Lethal mutation of somatic cell in embryogenesis
19. Child was born with hereditary pathology - cleft palate. What type of mutation underlies this pathology?
Non-lethal mutation of somatic cell in embryogenesis *
Non-lethal mutation of somatic cell
Lethal mutation of somatic cell
Non-lethal mutation of sexual cell mother or father
Lethal mutation of somatic cell in embryogenesis
20. A 10-year-old boy with mental retardation has typical appearance: small head with chamfered nape, oblique slant of palpebral fissures, low-bridged nose, and half-open mouth. A doctor is keeping him under observation in connection with congenital heart disease. What violation of karyotype causes the pathology in this boy?
Trisomy of 21 pare of chromosome *
Trisomy of 13 pare of chromosome
Trisomy of 18 pare of chromosome
Trisomy X
Monosomy of X-chromosome
21. A 25-year-old man complains of sterility. He is tall; he has asthenic body build and decrease in intelligence. Bar’s bodies were revealed in biopsy of his buccal epithelium. What pathology it may be?
Klinefelter’s syndrome *
Adipose-genital dystrophy
Acromegaly
Adrenogenital syndrome
Eunuchoidism
22. Few drops of 5% solution of trichloroacetic iron were added to urine of a newborn. Color of urine did not change. Phenylketonuria with irreversible brain injury was diagnosed in this child at the age of two. Why was not phenylketonuria diagnosed in this newborn?
Analytic mistake was made
Wrong substrate was chosen
Wrong time was chosen *
Reagent was prepared incorrectly
Wrong interpretation of results
23. Discharge of milk from nose was observed in a newborn during first feeding.
Which inborn defect of oral cavity can cause such condition?
This is normal occurrence
Absence of soft palate
Splitting of alveolar bone
Harelip
Cleft palate *
24. A patient is short; he has mental retardation, epicanthic folds, and short fingers. The trisomy of 21st pare of chromosome has been revealed in his karyotype. How is this chromosomal anomaly referred to?
Down’s syndrome *
Klinefelter’s syndrome
Turner’s syndrome
Trisomy X-syndrome
Specific fetopathy
25. In the second half of pregnancy a woman has disorders of blood circulation in placenta with violation of all its functions: respiratory, trophic, protective, excretory, and hormonogenic. This has led to development of secondary placental insufficiency syndrome. Which pathologic process can develop in such conditions?
Gametopathy
Blastopathy
Embryopathy
Fetopathy *
Galactosemia
26. A patient was exposed to ionizing radiation by accident. It has led to development of deletion – a loss of chromosome segment. How is this pathologic happening referred to?
Mutation *
Exudation
Alteration
Enzymopathy
Reparation
27. Mutation, inversion of one chromosome, has developed in a patient
as a consequence of ionizing radiation influence. How is pathogenic factor called, which evoked these pathologic changes?
Physical mutagen *
Chemical mutagen
Biological mutagen
Carcinogen
Virus
28. A patient has mutation of gene which is responsible for hemoglobin synthesis. It has lead to development of sickle-cell anemia. What kind of pathological hemoglobin is found out this case?
Hb A
Hb A1
Hb F
Hb S *
Bart-Hb
29. A patient has pathological processes resulted from X-linked gene mutation. This disease is accompanied by deficiency of VIII factor of blood coagulation and prolongation of blood coagulation time to 25 min. What is this disease?
Glaucoma
Hemophilia *
Hemeralopia
Daltonism
Galactosemia
30. A teenager has asthenic body build, gynecomastia, and testicular atrophy. For verification of diagnosis he was sent to medical-genetic consulting room. What karyotype will be found out in this case?
47 XXY, one Bar’s body *
47 XXY, two Bar’s bodies
46 XY, Bar’s bodies are absent
45 XO, Bar’s bodies are absent
47 XXX, two Bar’s body
31. Healthy parents gave birth to a girl with blue eyes and fair hair. During the first months the girl developed irritability, anxiety, disturbances of nutrition and sleep.
Neurologist’s examination established development delay in her. What genetic method has to be applied in this case?
Biochemical *
Cytological
Gemellary
Genealogical
Population-statistic
32. In which variant of karyotype in nucleus of somatic cells only one Bar’s body can be found?
47 XX, 15+ *
45 XO
45 XY
D.47 XY, 21+
E. 48 XXXY
33. A percentage of concordance among monozygotic and dizygotic twins at following diseases comprises relatively: tuberculosis – 66 and 23, schizophrenia - 69 and 10, epilepsy – 56 and 10, harelip – 33 and 5, endemic goiter – 71 and 70. Taking into
account this information, genotype is not important for formation of
Endemic goiter *
Harelip
Epilepsy
Schizophrenia
Tuberculosis
34. A 32-year-old man has tall stature, high-pitched voice, gynecomastia, adult woman pattern of hair distribution, mental retardation, infertility. Klinefelter’s syndrome was diagnosed in him previously. For diagnosis verification it is important to examine:
Karyotype *
Rhesus-factor
Spermatogenesis
Blood group
Genealogy
35. 46 chromosomes were revealed at patient with signs of Down’s syndrome. What kind of chromosomal anomalies have led to this disease?
Translocation *
Inversion
Deletion
Duplication
Circling
36. Father has astigmatism and mother is healthy. What is possibility that their children will suffer from astigmatism?
50% *
100%
75%
25%
0%
37. A 3-year-old child has edematous skin, frequent inflammations with marked exudations, and prolonged allergic reactions. Which type of diathesis does this child have?
Exudative *
Asthenic
Lymphohypoplastic diathesis
Gouty diathesis
Hemorrhage
38. Congenital diseases are diseases, which are:
Manifesting at birth of a child *
All hereditary diseases
Hereditary dominant disorders
Result from pathologic labor
Transplacental infectious diseases
39. Which disorder is X-linked?
Hemophilia A *
Klinefelter’s syndrome
Trisomy X-syndrome
Hypophosphatemic rickets
Short fingers
40. A patient has hernias, aortic aneurysm, long thin extremities, lens ectopia. Which hereditary disease are these symptoms typical for?
Ehlers-Danlos’ syndrome *
Marfan syndrome
Sjögren's sicca syndrome
Mucopolysaccharidoses
Incomplete osteogenesis
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