“22q and You” Center

The Children's Hospital of Philadelphia
Philadelphia, PA


About “22q and You” Center

The “22q and You” Center, at The Children’s Hospital of Philadelphia, provides state of the art diagnosis, treatment and follow-up services for individuals and families affected by chromosome 22q11.2 abnormalities, including deletions, duplications, and gene mutations within this region of chromosome 22. In addition, we continue to lead conduct research and provision of coordinated care while striving to understand etiologies and best treatment strategies. Our staff includes clinicians and scientists with expertise in all facets of basic science and clinical care. We have evaluated more than 1,000 patients with differences in chromosome 22q11.2,. While many of our patients reside within the Mid-Atlantic states, we serve the broader North American and international community as well, with families traveling to us from throughout the continental United States, Alaska, Hawaii, Canada, and abroad, including such distant locations as Australia, England, France, Germany, Ireland, Israel and Ukraine.

Related Rare Diseases: