Multiple choice

A doctor told a couple that their son is suffering from a genetic disease, which is caused by a deletion on the short arm of chromosome 5. The son of the couple must be suffering from

  1. Turner syndrome

  2. Williams syndrome

  3. Down syndrome

  4. Cri-du-chat

  5. Klinefelter syndrome
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D Correct answer
Explanation

Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing, as a result of this deletion and each may contribute to the symptoms of the disorder. One of the deleted genes is TERT (telomerase reverse transcriptase).

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