Genetics Northern California

22q11.2 deletion

22q11.2 deletion syndrome is a craniofacial genetic condition that was originally described by Dr. Shprintzen in 1978. There is a wide spectrum of clinical features associated with this condition including congenital heart defects, cleft palate, learning disabilities, distinct facial features, calcium imbalance and increased susceptibility to infections. Some individuals are given different names of this condition such as DiGeorge syndrome (DGS) or velocardiofacial syndrome (VCFS).

Individuals with 22q11.2 deletion syndrome are missing a small amount of genetic information on chromosome 22. The size of the deletion (missing piece) does not predict the severity of the condition. The majority of cases are not inherited. A small percentage of individuals inherit this deletion from a parent. There can be wide variation of clinical features among affected family members. Individuals with this condition have a 50% chance of passing this condition to their offspring.

Diagnosis
22q11.2 deletion syndrome is diagnosed in individuals by chromosome blood test called fluorescence in-situ hybridization (FISH). There is a very small percentage of individuals with clinical features of 22q11.2 deletion syndrome that have a negative test result. Testing may be used to confirm a suspected clinical diagnosis of 22q11.2 deletion syndrome. Prenatal testing is also available for at risk pregnancies.

Treatment/Services
There is no cure or treatment to replace the missing piece of genetic material that is missing in individuals with this condition. Coordination of care for individuals with 22q11.2 deletion syndrome can be overwhelming for families and caretakers. It is highly recommended that Individuals with 22q11.2 deletion syndrome be referred to a craniofacial team for management of their craniofacial concerns. This generally includes evaluations from genetics, plastic surgery, maxillofacial surgery, speech, audiology, otolaryngology, developmental pediatrics, neurology, nursing and orthodontics. Non-craniofacial medical concerns are often closely followed by other specialists outside the craniofacial team. These specialists often include but are not limited to endocrinology, immunology, psychiatry and cardiology.

RESOURCES

Genetics Home Reference: 22q11.2 deletion syndrome - General information about 22q11.2 deletion syndrome provided by the National Library of Health.  Also inlcudes links to many related links.

Velo-Cardio-Facial Syndrome Educational Foundation Inc. - Provides information about VCFS, news updates, support group information, and links to related sites.

22q (The International 22q11.2 Deletion Syndrome Foundation) - This site includes information about 22q11.1 deletion syndrome and support resources for families.