A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. Your doctor will likely order this test if your child has:
- A combination of medical problems or conditions suggesting 22q11.2 deletion syndrome
- A heart defect, because certain heart defects are commonly associated with 22q11.2 deletion syndrome
In some cases, a child may have a combination of conditions that suggest 22q11.2 deletion syndrome, but the lab test doesn't indicate a deletion in chromosome 22. Although these cases present a diagnostic challenge, the coordination of care to address all of the medical, developmental or behavioral problems will likely be similar.
July 18, 2017
- National Library of Medicine. 22q11.2 deletion syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#genes. Accessed May 25, 2017.
- 22q11.2 deletion disorders (DiGeorge syndrome and velocardiofacial syndrome). American Heart Association. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/22q112-Deletion-Disorders-DiGeorge-Syndrome-and-Velocardiofacial-Syndrome_UCM_309017_Article.jsp#.WSc5wWd1rRE. Accessed May 25, 2017.
- DiGeorge syndrome (DGS). American Academy of Allergy Asthma & Immunology. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome. Accessed May 25, 2017.
- DiGeorge syndrome. Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/digeorge-syndrome. Accessed May 25, 2017.
- Hofstetter AM, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133:e946.
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- Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
- Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
- Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Management and prognosis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
- AskMayoExpert. 22q11.2 deletion syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016. Accessed May 10, 2017.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. July 6, 2017.
DiGeorge syndrome (22q11.2 deletion syndrome)