Multiple choice

Which of the following is caused by the microdeletion of chromosome 7q11.2?

  1. Cowden syndrome

  2. Li-Fraumeni syndrome

  3. Williams syndrome

  4. Angelman syndrome
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C Correct answer
Explanation

It is a chromosomal disorder and can be transmitted as dominant trait. It is caused by the microdeletion of chromosome 7q11.2 leading to deletion of elastin gene. It isusually not visible cytogenetically, but detectable by FISH or comparative genomic hybridization.

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