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MedlinePlus Health Topics
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C2675369
http://purl.bioontology.org/ontology/MEDLINEPLUS/C2675369
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|---|---|
| Preferred Name | Chromosome 22q11.2 duplication syndrome |
| Definitions |
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.~The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.
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| Synonyms |
Chromosome 22q11.2 microduplication syndrome
22q11.2 duplication
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.~The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities. |
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| altLabel |
Chromosome 22q11.2 microduplication syndrome
22q11.2 duplication
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| prefLabel | Chromosome 22q11.2 duplication syndrome
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| Associated condition of | |
| DB XR ID | GTR:C2675369~MeSH:D025063~OMIM:608363~SNOMED CT:699311001
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| Inheritance | ad:Autosomal dominant
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| type | |
| tui | T047
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| notation | C2675369
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| Semantic type UMLS property | |
| cui | C2675369
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