What is the correct answer?


Topic: Fragile X Syndrome
Subject: Medicine
You are asked to see a mentally challenged 45-yearold male from a nearby group home who has groin pain. On examination you notice that he has large ears, a prominent jaw, and large symmetric testicles.
These findings are consistent with:

A. A variant form of Down syndrome

B. Aspergers syndrome

C. Klinefelters syndrome

D. Fragile X syndrome

Correct Answer :

D. Fragile X syndrome

Fragile X syndrome accounts for more cases of mental retardation in males than any other genetic disorder except Down syndrome; about one in 4000- 6000 males is affected. Down syndrome, Klinefelters syndrome, and homocystinuria do not present with the described findings. Aspergers syndrome is a variant of autism in people of normal to high intelligence. Patients with Klinefelters syndrome usually have small testicles.

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