CausesBy Mayo Clinic Staff
DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent.
If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted in DiGeorge syndrome is known as 22q11.2.
The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg, or it may occur early during fetal development. Rarely, the deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms.
Sept. 03, 2014
- DiGeorge syndrome. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome/. Accessed June 16, 2014.
- 22q11.2 deletion syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Accessed June 16, 2014.
- DiGeorge syndrome (DGS). American Academy of Allergy, Asthma & Immunology. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome.aspx. Accessed June 16, 2014.
- DiGeorge syndrome. American Heart Association. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp. Accessed June 16, 2014.
- Chromosome 22q11.2 deletion syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/853/viewFullReport. Accessed June 16, 2014.
- DiGeorge Syndrome. The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/immunology_allergic_disorders/immunodeficiency_disorders/digeorge_syndrome.html. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Epidemiology and pathogenesis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Management and prognosis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Hofstetter AM, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133:e946.
- VCFSEF support groups & contacts in the United States. Velo-Cardio-Facial Syndrome Educational Foundation, Inc. http://www.vcfsef.org/sub_page.php?sub_id=27&parent_id=2. Accessed June 17, 2014.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 3, 2014.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. July 21, 2014.