Welcome to The virtual "22q and You" Center at The Children's Hospital of Philadelphia.
The chromosome 22q11.2 deletion — a genetic disorder at the root of syndromes such as DiGeorge and velocardiofacial — may cause a variety of health problems, ranging from heart defects and cleft palate to feeding difficulties, immune problems, a unique pattern of learning disabilities and more. The good news is that with early diagnosis, intervention and family support, many children with this disorder lead full and meaningful lives.
At The "22q and You" Center — established in 1996 — our goal is to provide the finest diagnosis, treatment and follow-up services to these children and their families. We also continue to lead the way in researching the 22q11.2 deletion, hoping to find out more about what causes it, how it affects children and how we can make their lives even better.
The national and international medical community recognizes our Center as the premiere site for the diagnosis and multidisciplinary management of children with a chromosome 22q11.2 deletion. Our staff includes geneticists, genetic counselors and other medical personnel specializing in the disorder.
We have evaluated more than 600 patients with a 22q11.2 deletion, making our Center the world leader in 22q multidisciplinary evaluation. While many of our patients are from the mid-Atlantic states, we serve the international community as well. Families travel to us from throughout the continental United States, Alaska, Hawaii, Canada, and abroad — including such distant locations as Australia, England, France, Germany, Israel and Ukraine.
We've created this Web site to:
Whether you're a parent of a child newly diagnosed with the chromosome 22q deletion, or if you've been coping with the diagnosis for years, this Web site is for you. You can find out more about this genetic disorder, meet our team and learn about the services we offer. Be sure to check back often, as our site will always be growing and changing. If you have any questions we haven't answered here, please feel free to contact us at 215-590-2920.
Donna M. McDonald-McGinn, MS, CGC
Program Director, The "22q and You" Center
Associate Director, Clinical Genetics