NIH MeSH · D058165Diseases

22q11 Deletion Syndrome

Also known as22q11 Deletion Syndromes · Deletion Syndrome, 22q11 · Deletion Syndromes, 22q11 · Syndrome, 22q11 Deletion · Syndromes, 22q11 Deletion

Definition

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.

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

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Related concepts

Acrocephalosyndactylia

Congenital craniostenosis with syndactyly.

Source: NIH MeSH 2026 (D058165) — National Library of Medicine, public domain. View official MeSH record ↗