Chromosomal abnormalities · USMLE Step 1

Which chromosomal abnormality results from a reciprocal translocation between the long arms of chromosomes 14 and 21?

  1. Balanced reciprocal translocation
  2. Robertsonian translocation
  3. Isochromosome formation
  4. Ring chromosome formation
Show answer and explanation

Correct answer: Robertsonian translocation

Robertsonian translocation involves the fusion of two acrocentric chromosomes, such as chromosomes 14 and 21. It is a common cause of familial Down syndrome. Balanced translocations do not involve this specific fusion pattern.

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