KROK 1 2018 – Question 42 · KROK (Medicine) · Biology

A 40-year-old pregnant woman underwent amniocentesis. Examination determined the fetal karyotype to be 47, XY+21. What fetal pathology was detected?

  1. A. Down syndrome
  2. B. Turner syndrome
  3. C. Patau syndrome
  4. D. Klinefelter syndrome
  5. E. Phenylketonuria
Hint

Decode the karyotype notation: the total chromosome count, the sex chromosomes, and which autosome is present in an extra copy.

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