22q11 deletion syndrome program
A genetic disorder characterized by the partial deletion of chromosome 22, 22q11 deletion syndrome is a variable, multisystem disorder. Found in about 1 of every 3,000 children, it is also known as 22q11, velo-cardio-facial syndrome (VCFS), DiGeorge syndrome, or Shprintzen syndrome.
Complications from 22q11 manifest themselves differently from child to child — those affected may experience a few or many symptoms. These 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 can also have characteristic facial features, kidney abnormalities, developmental delay, and psychological and behavioral complications.
Because of its multiple and varying effects, 22q11 can be difficult to diagnose. Clinical suspicion is often confirmed through genetic testing by FISH (fluorescence in situ hybridization) on a blood sample.
What causes it?
Most children diagnosed with 22q11 have a spontaneous (not inherited) microdeletion of chromosome region 22q11. However, some children have chromosome rearrangements, or have inherited the disorder from an affected parent.
The syndrome behaves as an autosomal dominant condition, which means if one parent has the deletion, the chance for another affected child is 50 percent with each pregnancy. If the condition is caused by a de novo occurrence (not inherited), then the risk for another affected child is approximately 1 percent.
About the program
The hospital's 22q11 deletion syndrome program offers the first team of pediatric experts in Illinois dedicated to providing comprehensive management and multidisciplinary care for kids with this condition. Because of the complexity and range of complications often found in children with 22q11 deletion syndrome, affected youngsters usually need multiple pediatric specialists to treat specific medical issues as well as manage genetic, developmental and psychosocial needs or provide reproductive counseling.
The program 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 deletion through an established parent support group.
The 22q11 team
Cardiology
Genetics: Brad Angle, MD
Immunology: Ramsey Fuleihan, MD
Neuropsychology: Frank Zelko, PhD
Otolaryngology (ENT): Jeff Rastatter, MD
Psychiatry
Speech/Language Pathology: Annie Blaumueller, MA, CCC-SLP
Program Coordinator/Genetic Counselor: Maria Helgeson
How to contact us
- For new appointments, call 773.880.4462; fax: 773.929.9565
- For more information, call Program Coordinator Maria Helgeson at 773.880.3358
- To write to us:
Children's Memorial Hospital
22q11 Deletion Syndrome Program
2300 Children's Plaza, Box 59
Chicago, IL 60614-3363