A member asked:

Would a high resolution cytogenetic analysis detect digeorge syndrome or q22?

A doctor has provided 1 answer

Multiple tests...: There are multiple tests used to detect DiGeorge syndrome. The one preferred is comparative genomic hybridization(aCGH) to detect the 22p 11.2 deletion. It compares the patient's genome against another one used as reference.For more information and decision on further tests this should be consulted with a Genetics specialist.

Answered 7/26/2020

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What are common physical features of people with digeorge syndrome?

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