Harvard Catalyst Profiles

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22q11 Deletion Syndrome

"22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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 graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication.
Bar chart showing 6 publications over 4 distinct years, with a maximum of 2 publications in 2014 and 2018
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.