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Genetic and Rare Diseases Information Center (GARD)

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15q11.2 microdeletion


Other Names for this Disease
  • Chromosome 15q11.2 deletion
  • Chromosome 15q11.2 microdeletion
  • Del(15)(q11.2)
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Overview

15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely.[1] The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder.[1][2] Other features may include birth defects and seizures.[2] However, some people have no apparent physical, learning, or behavior problems.[1] A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
Last updated: 3/21/2015

References

  1. 15q11.2 microdeletions. Unique. 2012; http://www.rarechromo.org/information/Chromosome%2015/15q11.2%20microdeletions%20FTNW.pdf.
  2. Cox DM, Butler MG. The 15q11.2 BP1-BP2 Microdeletion Syndrome: A Review. Int J Mol Sci. February 13, 2015; 16(2):4068-4082.
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Basic Information

  • 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 15q11.2 microdeletion. 

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 15q11.2 microdeletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 15q11.2 deletion
  • Chromosome 15q11.2 microdeletion
  • Del(15)(q11.2)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.