Somatotypes) in pathology

1. Three chromosomes of 21st pair were revealed in a baby by karyotyping. Mark the phenotypic manifestation of this mutation.

A. Patau’s syndrome

B. Edward’s syndrome

C. Down’s syndrome

D. Turner’s syndrome

E. Polisomia Y-syndrome

2. Test of amniotic fluid for determination of sexual chromatin showed that fetus’s cells include 2 bodies of sexual chromatin (Bar’s bodies). Which disease was revealed in the fetus?

A. Klinefelter’s syndrome

B. Patau’s syndrome

C. Down’s syndrome

D. Edward;s syndrome

E. Trisomy X-syndrome

3. A 20-year-old man complains of headache, failing sight, muscular weakness. His height is 2.00 m, weight is 80 kg, he has long extremities, and kyphosis. On X-ray examination the skull film showed enlargement of Turkish saddle. Sexual chromatin is absent. What pathway is the most possible in appearance of gigantism in the young man?

A. Excess of growth hormone

B. Somatoliberin insufficiency

C. Gonadoliberin insufficiency

D. Testosterone insufficiency

E. Chromosomal mutation

4. A woman addressed to the medical-genetic consultation. Short neck with wing-shaped skin folds (“sphinks’s neck”), broad chest, and mammary hypoplasia were revealed in her on examination. What is the most possible diagnosis?

A. Patau’s syndrome

B. Syndrome of “cat’s cry”

C. Turner’s synrome

D. Morris’s syndrome

E. Klinefelter’s syndrome

5. A child being born in late marriage has short stature, mental retardation, thick geographic tongue, narrow palpebral fissures, and flat broad face. What disturbance underlies development of described syndrome?

A. Hereditary chromosomal pathology

B. Birth injury

C. Intrauterine intoxication

D. Intrauterine infection

E. Intrauterine immunoincompatible

6. Mother’s karyotype has 45 chromosomes. There was revealed that it connects with translocation of the 21st chromosome to the 15th one. Which disease more possible would develop in her child if the father’s karyotype is normal?

A. Down’s syndrome

B. Patau’s syndrome

C. Klinefelter syndrome

D. Morris’s syndrome

E. Edward’s syndrome

7. A child with hereditary defects manifested characteristic syndrome named “cat’s cry” just after the birth. At that newborns have “meowing” timbre of their voice. In examination of the karyotype of this child following was revealed:

A. Additional Y-chromosome

B. Additional 21st chromosome

C. Deletion of segment of 5th chromosome

D. Additional X-chromosome

E. Lack of X-chromosome

8. A woman addressed to the hospital with complaints of suppurating incised wound. A doctor was cleaning the wound surface with 3% solution of H₂O₂. But foam did not form. What does absence of preparation activity connected with?

A. Superficial wound

B. Low concentration of H₂O₂

C. Hereditary insufficiency of katalase

D. Hereditary insufficiency of erythrocyte phosphatdehydrogenese

E. Presence of pus in the wound

9. Sexual chromatin was revealed at examination of the buccal epithelium of a man. Which chromosomal disease is characterized by this symptom?

A. Down’s disease

B. Trisomy X-chromosome

C. Turner’s syndrome

D. Hypophosphatemic rickets

E. Klinefelter’s syndrome

10. A 10-month old baby has fair hair, very white skin and blue eyes. His parents have dark hair. He had normal appearance, but during last three months impairment of cerebral circulation and mental retardation developed in him. The reason for such condition can be:

A. Glycogenose

B. Acute porphyry

C. Hystidinemia

D. Lactosemia

E. Phenylketonuria

11. Daltonism (color blindness) was revealed in a 7-year-old boy at examination. His parents are healthy. But his mother’s father had the same anomaly. Which is the type of inheritance of this anomaly?

A. X-linked dominant

B. Autosomal dominant

C. X-linked recessive

D. Autosomal recessive

E. 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?

A. X-syndrome monosomia

B. Down’s syndrome

C. Normal karyotype

D. Kleinefelter’s syndrome

E. 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?

A. Klinefelter’s syndrome

B. Patau’s syndrome

C. Edward’s syndrome

D. Down’s syndrome

E. 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?

A. Duplication

B. Deletion

C. Inversion

D. Shortage

E. Translocation

15. The father of a pregnant woman suffers from gemeralopia. 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 gemeralopia, if it is a boy?

A. 50%

B. 0%

C. 75%

D. 100%

E. 25%

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

A. Harelip

B. Fracture of basis of skull

C. -

D. Septal deformity

E. Cleft palate

17. Elementary discrete unit of inheritance in both sexual and asexual reproduction is:

A. One chain of DNA molecule

B. One gene

C. One pair of nucleotides

D. Two chains of DNA molecule

E. One nucleotide

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

A. Non-lethal mutation of somatic cell

B. Lethal mutation of somatic cell

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

D. Non-lethal mutation of somatic cell in embryogenesis

E. Lethal mutation of somatic cell in embryogenesis

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

A. Non-lethal mutation of somatic cell in embryogenesis

B. Non-lethal mutation of somatic cell

C. Lethal mutation of somatic cell

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

E. 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?

A. Trisomy of 21 pare of chromosome

B. Trisomy of 13 pare of chromosome

C. Trisomy of 18 pare of chromosome

D. Trisomy X

E. 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?

A. Klinefelter’s syndrome

B. Adipopse-genital dystrophy

C. Acromegaly

D. Adrenogenital syndrome

E. Eunohoidism

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?

A. Analytic mistake was made

B. Wrong substrate was chosen

C. Wrong time was chosen

D. Reagent was prepared incorrectly

E. 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?

A. This is normal occurrence

B. Absence of soft palate

C. Splitting of alveolar bone

D. Harelip

E. 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?

A. Down’s syndrome

B. Klinefelter’s syndrome

C. Turner’s syndrome

D. Trisomy X-syndrome

E. 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?

A. Gametopathy

B. Blastopathy

C. Embriopathy

D. Fetopathy

E. 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?

A. Mutation

B. Exudation

C. Alteration

D. Enzymopathy

E. 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?

A. Physical mutagen

B. Chemical mutagen

C. Biological mutagen

D. Carcinogen

E. 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?

A. Hb A

B. Hb A₁

C. Hb F

D. Hb S

E. 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?

A. Glaucoma

B. Hemophilia

C. Hemeralopia

D. Daltonism

E. 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?

A. 47 XXY, one Bar’s body

B. 47 XXY, two Bar’s bodies

C. 46 XY, Bar’s bodies are absent

D. 45 XO, Bar’s bodies are absent

E. 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?

A. Biochemical

B. Cytological

C. Gemellary

D. Genealogical

E. Population-statistic

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

A. 47 XX, 15+

B. 45 XO

C. 45 XY

D.47 XY, 21+

E. 48 XXXY

33. A percentage of concordancy 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

A. Endemic goiter

B. Harelip

C. Epilepsy

D. Schizophrenia

E. 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:

A. Karyotype

B. Rhesus-factor

C. Spermatogenesis

D. Blood group

E. Genealogy

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

A. Translocation

B. Inversion

C. Deletion

D. Duplication

E. Circling

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

A. 50%

B. 100%

C. 75%

D. 25%

E. 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?

A. Exudative

B. Asthenic

C. Lymphohypoplastic diathesis

D. Gouty diathesis

E. Hemorrhage

38. Congenital diseases are diseases, which are:

A. Manifesting at birth of a child

B. All hereditary diseases

C. Hereditary dominant disorders

D. Result from pathologic labor

E. Transplacental infectious diseases

39. Which disorder is X-linked?

A. Hemophilia A

B. Klinefelter’s syndrome

C. Trisomy X-syndrome

D. Hypophosphatemic rickets

E. Short fingers

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

A. Ehlers-Danlos’ syndrome

B. Marfan’s syndrome

C. Shegren’s syndrome

D. Mucopolysaccharidoses

E. Incomplete osteodgenesys

ANSWERS:

1.-C, 2.-E, 3.-A, 4.-C, 5.-A, 6.-A, 7.-C, 8.-C, 9.-E, 10.-E, 11.-C, 12.-D, 13.-E, 14.-E, 15.-A, 16.-E, 17.-B, 18.-A, 19.-A, 20.-A, 21-A, 22.-C, 23.-E, 24.-A, 25.-D, 26.-A, 27.-A, 28.-D, 29.-B, 30.-A, 31.-A, 32.-A, 33.-A, 34.-A, 35.-A, 36-A, 37.-A, 38.-A, 39.-A, 40.-A.

Дата добавления: 2015-07-25