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.
Inheritance Pattern
Autosomal dominant
Other Names
Chromosome 22q11.2 duplication syndrome; Chromosome 22q11.2 microduplication syndrome
Related Genetics Topics
- 22 — MedlinePlus Genetics
Identifiers
- GTR: C2675369
- MeSH: D025063
- OMIM: 608363
- SNOMED CT: 699311001
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
