Genetic and Pediatric Diseases · USMLE Step 1

Which of the following statements about chromosomal disorders is TRUE?

  1. They always arise from single-gene point mutations
  2. They may involve extra, missing, or altered chromosomes
  3. They are usually inherited via simple recessive patterns
  4. They are never compatible with survival
Show answer and explanation

Correct answer: They may involve extra, missing, or altered chromosomes

Chromosomal disorders stem from numerical (extra or missing) or structural (deletion, translocation, inversion) abnormalities of chromosomes — affecting many genes at once.

Difficulty: Medium Question 12 of 20

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