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



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НАСЛЕДСТВЕННОСТЬ
Test 47

A 19-year-old female of average intelligence and short stature is being evaluated for amenorrhea. Taking a history, you discover that she has never menstruated. Physical examination reveals that she has a shield-shaped chest and her elbows turn outward when her arms are at her sides. She has a “thick neck” and you notice the absence of secondary female characteristics. Serum estrogen levels are found to be decreased, while both FSH and LH levels are increased. What is the correct diagnosis?



  1. Fragile X syndrome

  2. Klinefelter’s syndrome

  3. Multi-X syndrome

  4. Turner’s syndrome

  5. XYY syndrome


Test 48

Three chromosomes in the 21st pair are revealed on a baby’s karyotype examination. Which of the following syndromes is the phenotypic manifestation of this mutation?



  1. Patau’s syndrome

  2. Edward’s syndrome

  3. Down’s syndrome

  4. Turner’s syndrome

  5. Polisomia Y-syndrome


Test 49

Test of amniotic fluid for determination of sexual chromatin shows that female fetus’s cells include 2 bodies of sexual chromatin (Barr bodies). Which of the following syndromes is the phenotypic manifestation of this mutation?



  1. Klinefelter’s syndrome

  2. Patau’s syndrome

  3. Down’s syndrome

  4. Edward’s syndrome

  5. Trisomy X-syndrome ?


Test 50

A young girl has webbed neck, broad chest, increased elbow angle, undeveloped ovaries. Her karyotype- 45 x. Barr bodies aren’t revealed. Which of the following syndroms does she have?



  1. Down’s syndrome

  2. Patau’s syndrome

  3. Klinefelter syndrome

  4. Edward’s syndrome

  5. Turner’s syndrome


Test 51

Sex chromatin is revealed on a man’ buccal epithelium examination. Which of the following genetic diseases this sign is characteristic for?



  1. Down’s syndrome

  2. Trisomy X-chromosome

  3. Turner’s syndrome

  4. Patau’s syndrome

  5. Klinefelter’s syndrome



Test 52

A 25-year-old man complains of sterility. He has female habitus and decreased intelligence. Barr body is revealed at biopsy of his buccal epithelium. What is the correct diagnosis?



  1. Klinefelter’s syndrome

  2. Turner’s syndrome

  3. Down’s syndrome

  4. Adrenogenital syndrome

  5. Eunuhoidism


Test 53

A 17-year old man has short stature, mental subnormality, characteristic face and short fingers. The trisomy of the 21st pare of chromosome are revealed on his karyotype examination. What is the correct diagnosis?



  1. Klinefelter’s syndrome

  2. Turner’s syndrome

  3. Trisomy X-syndrome

  4. Specific fetopathy

  5. Down’s syndrome


Test 54

A 1-year old boy has suffers from a disease resulted from X-linked gene mutation. This disease is characterized by deficiency of VIII factor and tendency to bleed. What is the correct diagnosis?



  1. Sickle-cell anemia

  2. Hemophilia

  3. G6PD deficiency

  4. Hemolytic disease of newborn

  5. Fragile X syndrome


Test 55

Two types of cells with chromosomal set 46 XY and 47 XXY in equal quantities are revealed at examination of the patient’s karyotype. What is the most probable diagnosis?



  1. Trisomy X-syndrome

  2. Down’s syndrome

  3. Normal karyotype

  4. Klinefelter’s syndrome?

  5. Patau’s syndrome




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