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Welcome to the UC Davis MIND Institute » and Center for Excellence in Developmental Disabilities (CEDD) » resource page for 22q11.2 Deletion Syndrome

 

What is 22q11.2 Deletion Syndrome?

Chromosome 22q11.2 deletion syndrome, also called velocardiofacial syndrome and DiGeorge syndrome, is caused by the deletion of a small segment of the long arm of chromosome 22 and is linked to over 180 physical, psychological and behavioral anomalies.  Children with the syndrome experience some degree of developmental delay and learning difficulties. Most of these children have at least some of the following physical conditions: congenital heart defects, cleft palate or velopharyngealinsufficiencies, immune deficiencies or neonatal hypocalcemia.  Likewise, most of them are at increased risk for some of the following behavioral and psychological disorders: attention deficit hyperactivity disorder, autism spectrum disorders, oppositional-defiant disorder, obsessive-compulsive disorder and schizophrenia.

Medical Care Management

Medical Care Guidelines from International 22q11.2 Deletion Syndrome Consortium.
Bassett, A.S. et al. (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. Journal of Pediatrics 159, 332–9.  Article (PDF) »  

Fung, W. L. A. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med (2015). doi:10.1038/gim.2014.175 Article (PDF) »

MIND 22q11.2 Research Center and Clinic Medical Issues Video » 

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