База тестів крок-1 з патофізіології (пмк-1)



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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?



  1. X-syndrome monosomia

  2. Down’s syndrome

  3. Normal karyotype

  4. Klinefelter’s syndrome *

  5. 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?



  1. Klinefelter’s syndrome

  2. Patau’s syndrome

  3. Edward’s syndrome

  4. Down’s syndrome

  5. 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?



  1. Duplication

  2. Deletion

  3. Inversion

  4. Shortage

  5. 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?



  1. 50% *

  2. 0%

  3. 75%

  4. 100%

  5. 25%

16. There is regurgitation of milk to the nose in an infant during a meal. Mark the possible reason for this disturbance?



  1. Harelip

  2. Fracture of basis of skull

  3. -

  4. Septal deformity

  5. Cleft palate *

17. Elementary discrete unit of inheritance in both sexual and asexual reproduction is: A. One chain of DNA molecule



  1. One gene *

  2. One pair of nucleotides

  3. Two chains of DNA molecule

  4. One nucleotide

18. A 12-year-old boy has lower jaw carcinoma. What type of mutation underlies the tumor development?



  1. Non-lethal mutation of somatic cell *

  2. Lethal mutation of somatic cell

  3. Non-lethal mutation of sexual cell mother or father

  4. Non-lethal mutation of somatic cell in embryogenesis

  5. Lethal mutation of somatic cell in embryogenesis

19. Child was born with hereditary pathology - cleft palate. What type of mutation underlies this pathology?



  1. Non-lethal mutation of somatic cell in embryogenesis *

  2. Non-lethal mutation of somatic cell

  3. Lethal mutation of somatic cell

  4. Non-lethal mutation of sexual cell mother or father

  5. 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?



  1. Trisomy of 21 pare of chromosome *

  2. Trisomy of 13 pare of chromosome

  3. Trisomy of 18 pare of chromosome

  4. Trisomy X

  5. 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?



  1. Klinefelter’s syndrome *

  2. Adipose-genital dystrophy

  3. Acromegaly

  4. Adrenogenital syndrome

  5. 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?



  1. Analytic mistake was made

  2. Wrong substrate was chosen

  3. Wrong time was chosen *

  4. Reagent was prepared incorrectly

  5. 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?


  1. This is normal occurrence

  2. Absence of soft palate

  3. Splitting of alveolar bone

  4. Harelip

  5. 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?



  1. Down’s syndrome *

  2. Klinefelter’s syndrome

  3. Turner’s syndrome

  4. Trisomy X-syndrome

  5. 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?



  1. Gametopathy

  2. Blastopathy

  3. Embryopathy

  4. Fetopathy *

  5. 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?



  1. Mutation *

  2. Exudation

  3. Alteration

  4. Enzymopathy

  5. 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?


  1. Physical mutagen *

  2. Chemical mutagen

  3. Biological mutagen

  4. Carcinogen

  5. 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?



  1. Hb A

  2. Hb A1

  3. Hb F

  4. Hb S *

  5. 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?



  1. Glaucoma

  2. Hemophilia *

  3. Hemeralopia

  4. Daltonism

  5. 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?



  1. 47 XXY, one Bar’s body *

  2. 47 XXY, two Bar’s bodies

  3. 46 XY, Bar’s bodies are absent

  4. 45 XO, Bar’s bodies are absent

  5. 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?


  1. Biochemical *

  2. Cytological

  3. Gemellary

  4. Genealogical

  5. Population-statistic

32. In which variant of karyotype in nucleus of somatic cells only one Bar’s body can be found?



  1. 47 XX, 15+ *

  2. 45 XO

  3. 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



  1. Endemic goiter *

  2. Harelip

  3. Epilepsy

  4. Schizophrenia

  5. 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:



  1. Karyotype *

  2. Rhesus-factor

  3. Spermatogenesis

  4. Blood group

  5. Genealogy

35. 46 chromosomes were revealed at patient with signs of Down’s syndrome. What kind of chromosomal anomalies have led to this disease?



  1. Translocation *

  2. Inversion

  3. Deletion

  4. Duplication

  5. Circling

36. Father has astigmatism and mother is healthy. What is possibility that their children will suffer from astigmatism?



  1. 50% *

  2. 100%

  3. 75%

  4. 25%

  5. 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?



  1. Exudative *

  2. Asthenic

  3. Lymphohypoplastic diathesis

  4. Gouty diathesis

  5. Hemorrhage

38. Congenital diseases are diseases, which are:



  1. Manifesting at birth of a child *

  2. All hereditary diseases

  3. Hereditary dominant disorders

  4. Result from pathologic labor

  5. Transplacental infectious diseases

39. Which disorder is X-linked?



  1. Hemophilia A *

  2. Klinefelter’s syndrome

  3. Trisomy X-syndrome

  4. Hypophosphatemic rickets

  5. Short fingers

40. A patient has hernias, aortic aneurysm, long thin extremities, lens ectopia. Which hereditary disease are these symptoms typical for?



  1. Ehlers-Danlos’ syndrome *

  2. Marfan syndrome

  3. Sjögren's sicca syndrome

  4. Mucopolysaccharidoses

  5. Incomplete osteogenesis




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