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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > 22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > 22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > 22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Lymphatic Abnormalities > 22q11 Deletion Syndrome
Hemic and Lymphatic Diseases > Lymphatic Diseases > Lymphatic Abnormalities > 22q11 Deletion Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > 22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > 22q11 Deletion Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > 22q11 Deletion Syndrome
Endocrine System Diseases > Parathyroid Diseases > Hypoparathyroidism > 22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > 22q11 Deletion Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > 22q11 Deletion Syndrome

Preferred term

22q11 Deletion Syndrome  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Scope note

  • 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.

History note

  • 2011

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URI

http://www.yso.fi/onto/mesh/D058165

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