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Genetic and Rare Diseases Information Center (GARD)

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16p11.2 deletion syndrome


Other Names for this Disease
  • Chromosome 16p11.2 deletion syndrome
  • Del(16)(p11.2)
  • Microdeletion 16p11.2
  • Monosomy 16p11.2
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Overview


16p11.2 deletion syndrome is a condition caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. Some affected individuals have minor physical abnormalities; however, signs and symptoms vary. Some affected individuals have no identified physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected individuals can pass the condition on to their children.[1]
Last updated: 7/6/2011

References

  1. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 7/6/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 16p11.2 deletion syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 16p11.2 deletion syndrome. Click on the link to view a sample search on this topic.