Chromosomal abnormalities · USMLE Step 1

A lab report shows the presence of an isochromosome of the X chromosome. This finding is most associated with which condition?

  1. Prader-Willi syndrome
  2. Turner syndrome
  3. Down syndrome
  4. Edwards syndrome
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Correct answer: Turner syndrome

Turner syndrome can result from an isochromosome X, where both arms are identical. This leads to monosomy of one arm and duplication of the other. It contributes to the clinical features of Turner syndrome.

Difficulty: Medium Question 14 of 20

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