22q and You Center News and Updates

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22Q11.2 Deletion Syndrome: Common but Underrecognized

Published on in Children's Doctor

Illustration of Chromosome 22

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.