Multiple choice

What are the structural abnormalities of chromosomes associated with Patau and Down syndrome?

  1. Deletions

  2. Duplications

  3. Robertsonian translocation

  4. Isochromosome

  5. Inversions
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C Correct answer
Explanation

A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties. In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome).

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