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22q and You Center News

Our staff includes providers who specialize in 22q11.2 deletion and duplication syndrome. We have evaluated more than 1,500 patients at the 22q and You Center.

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22Q11.2 Deletion Syndrome: Common but Underrecognized

Dec 7, 2021

Five-year-old “Peter” presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his 2 physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. But Peter’s parents were relentless in attempting to resolve their son’s diagnostic odyssey.

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