Genetic and Pediatric Diseases · USMLE Step 1

Which genetic condition tends to have more severe expression of disease in males because of having only one X chromosome?

  1. Down syndrome (trisomy 21)
  2. Turner syndrome (monosomy X)
  3. X-linked recessive disorders
  4. Autosomal recessive disorders
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Correct answer: X-linked recessive disorders

In X-linked recessive disorders, males (XY) with one mutated X-linked gene manifest disease fully because they lack a second normal copy; females (XX) often are carriers with milder or no symptoms.

Difficulty: Medium Question 15 of 20

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