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22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a genetic disorder caused by the partial deletion of genetic material on one copy of a person’s chromosome 22. This genetic material contains important instructions that tell the body how to grow and develop. 22q11.2 deletion syndrome can affect multiple body systems, however each person may have a different combination of health problems of varying severity. 22q11.2 deletion syndrome is sometimes called DiGeorge syndrome or Velocardiofacial syndrome. 22q11.2 is a common condition. Originally thought to affect 1 in every 3000 people, we are now learning that it may be more prevalent. 


Most children diagnosed with 22q11.2 have a spontaneous (not inherited) deletion of chromosome region 22q11.2. This means that the affected individual is the first person in their family to have this condition. The spontaneous deletion of genetic material occurs by random chance. It is not the result of something a child’s parents did or did not do. Other possibilities are to have chromosome rearrangements or to have inherited the disorder from an affected parent. Sometimes, a mildly affected parent may not know that they have 22q11.2 deletion syndrome. We recommend genetic testing for all parents of children with 22q11.2 deletion syndrome as part of their standard care.

22q11.2 deletion syndrome is an autosomal dominant condition. This means that if one parent has the deletion, the chance for another affected child is 50% with each pregnancy. If the condition is caused by a spontaneous deletion, then the risk for another affected child is approximately 1%.


22q11.2 deletion syndrome can be difficult to diagnose because it affects each person differently. Sometimes a baby may be suspected to have this condition when he or she is born with multiple birth defects. Other times, babies are diagnosed with this condition after an abnormal newborn screen suggests a possible immunodeficiency. Older children and adults may be diagnosed later in life due to more mild features of this condition. Clinical suspicion of 22q11.2 deletion syndrome is often confirmed through genetic testing on a blood sample.


Complications from 22q11.2 present differently from child to child — those affected may experience few or multiple symptoms. These features include cardiovascular disease, cleft palate, immune deficiencies and velopharyngeal incompetence (incomplete palate closure behind the nose) resulting in speech-language and/or swallowing difficulties. Children with 22q11.2 can also have characteristic facial features, kidney abnormalities, developmental delay, and psychological and behavioral complications.


The 22q11.2 deletion syndrome program at Lurie Children’s, often called the “22q clinic,” offers the first team of pediatric experts in Illinois dedicated to providing comprehensive management and multidisciplinary care for kids and young adults with this condition. Because of the complexity and range of complications often found in individuals with 22q11.2 deletion syndrome, affected children usually need multiple pediatric specialists to treat specific medical issues as well as manage genetic, developmental and psychosocial needs or provide reproductive counseling.

The 22q clinic links the pediatric experience and skilled expertise from pediatric subspecialty areas, including cardiology, immunology, otolaryngology (ENT), speech/language pathology, neuropsychiatry/psychology and genetics. Offering bilingual staff to work with families in both English and Spanish, the clinic is unique in that it provides the opportunity to connect families affected by 22q11.2 deletion through an established parent support group.

The 22q Team

  • Genetics - Mindy Li, MD, and Allison Goetsch, MS, CGC
  • Immunology - Ramsey Fuleihan, MD, and Amanda M. Skoskiewicz, RN, MSN
  • Otolaryngology (ENT) - Jeff Rastatter, MD
  • Speech/Language Pathology - Katie Walsh, MS, CCC-SLP

We also have dedicated providers in the divisions of cardiology, child and adolescent psychiatry, developmental and behavioral pediatrics, kidney disease, urology, and endocrinology.

Make an Appointment

To make a new appointment, please contact us.

Phone: 312.227.6120 Fax: 312.227.9413

Ann & Robert H. Lurie Children's Hospital of Chicago
22q11 Deletion Syndrome Program
225 E. Chicago Avenue, Box 59
Chicago, IL 60611


For more information, please call program coordinator Joanna Lee at 312.227.6668.