Genetic and Pediatric Diseases · USMLE Step 1

Which feature differentiates a chromosomal disorder from a single-gene disorder in genetic disease classification?

  1. Chromosomal disorders always show autosomal recessive inheritance
  2. They involve abnormalities of chromosome number or structure
  3. Single-gene disorders never affect metabolic pathways
  4. Chromosomal disorders are invariably lethal
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Correct answer: They involve abnormalities of chromosome number or structure

Chromosomal disorders arise from numerical or structural abnormalities (e.g., extra chromosome, deletion, translocation) that impact many genes simultaneously, whereas single-gene disorders are due to mutations in a single gene.

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