KROK 1 2018 – Question 47 · KROK (Medicine) · Biology

A 20-year-old young man with tall stature, asthenic body type, signs of hypogonadism and gynecomastia, and low sperm count (azoospermia) has karyotype 47, XXY. What hereditary syndrome can be characterized by this chromosomal anomaly?

  1. A. Louis-Bar syndrome (ataxia-telangiectasia)
  2. B. Turner syndrome
  3. C. Klinefelter syndrome
  4. D. Down syndrome
  5. E. Wiskott-Aldrich syndrome
Hint

Interpret the karyotype notation: which sex chromosome is present in an extra copy, and what phenotype does that give in a male?

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