Diseases

22q11 Deletion Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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 Record

Classification

Broader headings

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MeSH Record

Synonyms

5 entry terms
  • 22q11 Deletion Syndromes
  • Deletion Syndrome, 22q11
  • Deletion Syndromes, 22q11
  • Syndrome, 22q11 Deletion
  • Syndromes, 22q11 Deletion

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2011

MeSH Record

Previous Indexing

  • Chromosome Deletion (1997-2010)
  • Chromosomes, Human, Pair 22 (1997-2010)

MeSH Hierarchy

Tree Numbers

  1. C05w.660w.207w.103
  2. C14w.240.400w.021
  3. C14w.280w.400w.044
  4. C15.604w.451.249
  5. C16w.131w.077w.019
  6. C16w.131w.240.400w.021
  7. C16w.131w.260w.019
  8. C16w.131w.482.249
  9. C16w.131w.621w.207w.103
  10. C16w.320w.180w.019
  11. C19w.642w.482w.500

AMA Style

References

  1. National Library of Medicine. 22q11 Deletion Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D058165. http://id.nlm.nih.gov/mesh/2026/D058165
  2. 22q11 Deletion Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q18554351