22q and You Center
The 22q and You Center at Children's Hospital of Philadelphia (CHOP) is an internationally recognized leader in diagnosing and treating children with chromosome 22q11.2 deletion syndrome.
This genetic disorder is caused by a small missing piece of the 22nd chromosome and is at the root of DiGeorge syndrome, velocardiofacial syndrome and other disorders.
22q11.2 is linked to nearly 200 mild to serious health and developmental issues that include heart defects, cleft palate, feeding difficulties, immune problems, learning disabilities and more.
For nearly 30 years, the 22q and You Center has served as the premiere site for coordinating and managing these children. Families from around the world come to CHOP seeking ways to best treat medical and developmental issues and help their children live healthy lives.
How we serve you
We offer extensive diagnostic and genetic testing including a new, highly accurate diagnostic blood test to detect the 22q11.2 deletion.
Conditions we treat
Our program treats children with 22q11.2 deletion and duplication syndromes, including DiGeorge syndrome, velocardiofacial syndrome and others.
Why choose CHOP for 22q deletion syndrome
CHOP has the largest program in the country dedicated to the diagnosis and treatment of children with 22q11.2 deletion syndrome. Our team has extensive experience supporting families to meet individual patient needs.
Meet our team
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.
Our research
Physicians and researchers at CHOP are actively studying 22q deletion syndrome with the goal of discovering the causes of the disorder and how to improve the lives of children affected by it.
22q family resources
We have compiled resources – including websites, support groups and more – to help you feel more confident in the care you are providing your child.
Resources for professionals
Everything you need to support your patient’s health, created and updated by our CHOP community of experts.
Patient stories
Your child’s appointment
From diagnosis and evaluation to treatment and follow-up resources, we can help your family cope with the diagnosis of chromosome 22q11.2 deletion and help your child lead a happy and meaningful life.
Your donation changes lives
Donations fuel breakthrough discoveries, innovative care and pioneering treatments at the 22q and You Center.
