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Genetics: Manifestations of Duplication 3q Syndrome and Similarities to CdLS

Question

What are some more manifestations of Duplication 3q Syndrome? Are there similarities with CdLS?

Answer of our experts

Dup 3q syndrome, which is caused by a cytogenetically visible (able to see on chromosome testing) duplication on the long arm of the third chromosome (3q), has some similarities with CdLS in that these children can have developmental delays, mental retardation, short stature, and some excess hair with arched eyebrows and synophrys (single eyebrow). Over time however it has become clear that the facial features are quite different from CdLS and children with dup3q do not have the limb differences that are seen in CdLS. We do not think that most people with CdLS have a gene alteration on 3q, and in fact, on testing, they donÕt.

IK /TK 7-13-10

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