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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 16p13.3 duplication


Other Names for this Disease
  • 16p13.3 duplication
  • Interstitial 16p13.3 duplication
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Overview

Chromosome 16p13.3 duplication is a chromosome abnormality that can affect many parts of the body. People with this condition have an extra piece (duplication) of chromosome 16 at a location designated p13.3. The signs and symptoms vary but may include developmental delay, speech delay, joint abnormalities, characteristic facial features, and occasional behavioral problems (i.e attention deficit and autism spectrum disorders). Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 12/15/2015

References

  1. CHROMOSOME 16p13.3 DUPLICATION SYNDROME. OMIM. January 2012; http://www.omim.org/entry/613458.
  2. 16p13.3 duplications and microduplications. Unique. 2013; http://www.rarechromo.org/information/Chromosome%2016/16p13.3%20duplications%20and%20microduplications%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 16p13.3 duplication. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Chromosome 16p13.3 duplication.

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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 16p13.3 duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 16p13.3 duplication
  • Interstitial 16p13.3 duplication
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.