Genetic and Pediatric Diseases · USMLE Step 1

Which of the following is the genetic basis of Down syndrome (most common form)?

  1. Autosomal recessive mutation in a single gene
  2. Extra copy of chromosome 21 (trisomy 21)
  3. Deletion of long arm of chromosome 5
  4. X-linked recessive deletion
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Correct answer: Extra copy of chromosome 21 (trisomy 21)

Down syndrome most commonly results from nondisjunction leading to an extra copy of chromosome 21 — trisomy 21 — affecting all or most cells. This chromosomal aneuploidy underlies the syndrome.

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