KROK 1 2019 – Question 152 · KROK (Medicine) · Biology

An 18-year-old girl comes to her physician with concern about her health because she has not achieved menarche. She denies any significant weight loss, changes in mood, or changes in her appetite. She mentions that her mother told her about mild birth defects, but she cannot recall the specifics. Past medical history and family history are benign. On physical examination, the patient is short in stature, has a short and webbed neck and wide chest. Staining of buccal smear reveals absence of Barr bodies in the nucleus of epithelial cells. A urine pregnancy test is negative. Which of the following genetic disorders is the most likely cause of this patient’s condition?

  1. A. Cri du chat (“cat-cry”) syndrome
  2. B. Klinefelter syndrome
  3. C. Patau syndrome
  4. D. Edwards syndrome
  5. E. Turner syndrome
Hint

Ask what absent sex chromatin in a phenotypic female implies about her X chromosomes, and match that with the somatic features.

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