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A member asked:
Can you tell me of someone that has chromosome 22q11.2 duplication syndrome?
A doctor has provided 1 answer
A known syndrome: "a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely...Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, an weak muscle tone." http://ghr.nlm.nih.gov/condition/22q112-duplication
Answered 8/13/2015
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