22q11 Deletion Syndrome


Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

22q11 Deletion Syndromes Deletion Syndrome, 22q11 Deletion Syndromes, 22q11 Syndrome, 22q11 Deletion Syndromes, 22q11 Deletion