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Diseases

Genetic and Rare Diseases Information Center (GARD)

22q11.2 duplication syndrome


Other Names for this Disease
  • 22q11.2 duplication
  • 22q11.2 microduplication syndrome
  • Chromosome 22q11.2 duplication syndrome
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Overview

22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner. While many affected people inherit the condition from a parent, others are affected due to having a new mutation that occurs for the first time. In either case, the condition can be passed on to children.[1] Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. The duplication is not detectable by karyotype and most cases are identified by a technique known as chromosomal microarray. Treatment depends on the symptoms in each person and includes an individualized educational program.[2]
Last updated: 3/23/2016

References

  1. 22q11.2 duplication. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/22q112-duplication. Accessed 5/10/2011.
  2. Firth HV. 22q11.2 Duplication. GeneReviews. November, 2013; http://www.ncbi.nlm.nih.gov/books/NBK3823/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 22q11.2 duplication syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 22q11.2 duplication syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 22q11.2 duplication
  • 22q11.2 microduplication syndrome
  • Chromosome 22q11.2 duplication syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.