Culture

Duplication 3q Syndrome (and similarities to CdLS)

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

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 dup 3q 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 don’t.

IK /TK 7-13-10

Legal Disclaimer:  Please take note that the CdLS Foundation’s Ask the Expert service is comprised of volunteer professionals in various areas of focus. Response times may vary and a response is not guaranteed. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.

Answer Published On: October 18th, 2018 7:04 PM