Chromosomal abnormalities · USMLE Step 1

A patient with short stature, streak ovaries, webbed neck, and coarctation of the aorta likely has which chromosomal finding?

  1. 47,XXX
  2. 47,XXY
  3. 45,X
  4. 46,XY deletion
Show answer and explanation

Correct answer: 45,X

Turner syndrome is characterized by a 45,X karyotype. This results in gonadal dysgenesis and physical findings such as webbed neck and cardiac anomalies. The other karyotypes correspond to different syndromes.

Difficulty: Medium Question 4 of 20

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