22q11 Deletion Syndrome

Overview

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about 22q11 Deletion Syndrome

Topic type

Condition

Category

Cardiology

MeSH classification

C05.660.207.103|C14.240.400.021|C14.280.400.044|C15.604.451.249|C16.131.077.019|C16.131.240.400.021|C16.131.260.019|C16.131.482.249|C16.131.621.207.103|C16.320.180.019|C19.642.482.500

Preparing for an appointment about 22q11 Deletion Syndrome

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• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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