Chromosomal abnormalities · USMLE Step 1

A patient with trisomy 18 presents with overlapping fingers, rocker-bottom feet, and cardiac abnormalities. What meiotic error most commonly causes this condition?

  1. Paternal meiosis I nondisjunction
  2. Maternal meiosis I nondisjunction
  3. Paternal meiosis II nondisjunction
  4. Postzygotic mitotic error
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Correct answer: Maternal meiosis I nondisjunction

Trisomy 18 (Edwards syndrome) is most often caused by maternal meiosis I nondisjunction. Advanced maternal age is a major risk factor. Postzygotic errors more commonly cause mosaicism.

Difficulty: Medium Question 11 of 20

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