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3. PATHOPHYSIOLOGY OF THE HEREDITARY DISORDERS

I. Choose the most common environmental influences that increase the rate of spontaneous mutations in germ cells.

1. Cytostatics.

2. Viruses.

3. High temperature.

4. Pesticides.

5. Aromatic hydrocarbons.

6. Gamma-radiation.

II. What testifies to the hereditary origin of the disease?

1. Great concordance of the disease in dizygotic twins living in similar conditions.

2. Great concordance of the disease in monozygotic twins living in different contrasting conditions.

3. Low concordance of the disease in monozygotic twins living in different conditions.

III. Which of the following disorders are associated with chromosome mutations?

1. Marfan's syndrome.

2. Down syndrome.

3. Kleinfelter's syndrome.

4. Turner's syndrome.

5. Trisomy syndrome.

6. Huntington's disease.

7. Von Willebrand's disease.

IV. Which of the following pairs are correct?

1. Turner's syndrome - 45, X.

2. Kleinefelter's syndrome - 47, XXY.

3. Kleinefelter's syndrome - 47, XXX.

4. Down syndrome - 46, XY.

5. Turner's syndrome - 45, Y.

6. Kleinfelter's syndrome - 48, XXXY.

7. Down syndrome - 47, XY,+21.

V. Which of the following statement of Lyon's hypothesis is correct?

1. Only one of the X chromosomes is genetically active.

2. The other X undergoes heteropyknosis.

3. Inactivation of either the maternal or paternal X occurs at random among all the cells.

4. Inactivation of the same X chromosome persists in all the cells derived from precursor cell.

VI. Which of the following inherited disorders are transmitted as autosome-dominant trait?

1. Familial hypercholesterolemia.

2. Beta-thalassemia.

3. Sickle cell anemia.

4. Huntington's disease.

5. Polycystic kidney disease.

6. Marfan's syndrome.

7. Phenylketonuria.

VII. Which of the following statements are correct?

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