 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.
| Descriptor ID |
D058165
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| MeSH Number(s) |
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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| Concept/Terms |
22q11 Deletion Syndrome- 22q11 Deletion Syndrome
- 22q11 Deletion Syndromes
- Deletion Syndrome, 22q11
- Deletion Syndromes, 22q11
- Syndrome, 22q11 Deletion
- Syndromes, 22q11 Deletion
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Below are MeSH descriptors whose meaning is more general than "22q11 Deletion Syndrome".
Below are MeSH descriptors whose meaning is more specific than "22q11 Deletion Syndrome".
This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in this website by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles.
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Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Res. 2019 09; 29(9):1389-1401.
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