22q and You Center

About Our Services

At The "22q and You" Center — the largest program in the country specializing in the 22q11.2 deletion — we have all the resources of The Children's Hospital of Philadelphia at our disposal, allowing us to offer "one-stop shopping" to children and their families. From diagnosis, evaluation and treatment to follow-up services and resources, we help parents cope with the diagnosis and learn how to help their children lead happy and meaningful lives.


In 1992, Children's Hospital researchers pioneered the FISH (fluorescence in situ hybridization) test — a highly accurate diagnostic blood test for the 22q11.2 deletion — which means that more and more children are being diagnosed and treated here. In addition, our researchers are looking at factors that may influence the deletion's effects, such as:

Evaluation and treatment

Once a child is diagnosed with a chromosome 22q11.2 deletion, we offer a comprehensive diagnostic evaluation that may include — over a three- to five-day period — consultation with healthcare professionals from as many as 15 subspecialties, including:

Because the number of necessary appointments can be overwhelming for parents, our Center's staff coordinates them, depending on what a child needs. We also help families arrange travel and can help find them a place to stay, if necessary. If needed, we schedule an admission at Children's Hospital. For families stressed by the medical expenses often associated with this complex disorder, our staff also spends numerous hours interceding with insurance companies on their behalf.


The "22q and You" Center provides follow-up care for inpatients and outpatients, as well as genetic counseling. Genetic services offer families who have experienced a birth problem (including the 22q11.2 deletion) valuable information, including:

In addition, because an increasing number of children with this disorder are reaching adulthood and their reproductive years — with a 50 percent chance of passing the disorder on to their own children — we have arranged for patients over the age of 18 to be evaluated by the Adult Genetics Department at the Hospital of the University of Pennsylvania.


The "22q and You" Center also connects families and healthcare professionals with valuable resources, such as:

The Center also serves as a resource for parents and healthcare providers worldwide, providing information and guidance about coping with the diagnosis and treatment of this condition. For instance, in 2003, our staff responded to more than 1,000 questions by phone, fax, e-mail and surface mail. Our current mailing list includes more than 2000 individuals and agencies spanning six continents.

Contact us

If you'd like more information about the services and resources we offer, please contact us by phone at 215-590-2920.

And be sure to check out our:
Resources for families
Resources for healthcare professionals

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Contact Us