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Definition
By Mayo Clinic staffDiGeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems.
Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, poor function of the parathyroid glands and behavioral disorders.
The number and severity of problems associated with DiGeorge syndrome vary greatly. Almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.
Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome and others. Although the term "22q11.2 deletion syndrome" is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.
- 22q11.2 deletion syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome. Accessed June 11, 2009.
- Kobrynski LJ, et al. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443.
- Congenital heart defects in children fact sheet. American Heart Association. http://www.americanheart.org/presenter.jhtml?identifier=12012. Accessed June 25, 2009.
- Hypocalcemia. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch274/ch274d.html. Accessed June 25, 2009.
- Seroogy C. Pathogenesis, epidemiology, and clinical manifestations of DiGeorge syndrome. http://www.uptodate.com/home/index.html. Accessed June 11, 2009.
- Chromosome 22. Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=22. Accessed June 24, 2009.
- Shprintzen RJ, et al. Velo-cardio-facial syndrome. Current Opinion in Pediatrics. 2005;17:725.
- Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunology and Allergy Clinics of North America. 2008;28:353.
- Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews. 2008;14:3.
- Gothelf D, et al. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews. 2008;14:59.
- Butts SC, et al. Velo-cardio-facial syndrome: The pediatric otolaryngologist's perspective. Current Opinion in Otolaryngology and Head and Neck Surgery. 2005;13:371.
