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Diseases

Genetic and Rare Diseases Information Center (GARD)

15q13.3 microdeletion syndrome


Other Names for this Disease
  • Chromosome 15q13.3 deletion syndrome
  • Microdeletion 15q13.3 syndrome
  • Chromosome 15q13.3 microdeletion syndrome
  • 15q13.3 microdeletion
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Overview

15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition.[1][2] 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.[3]It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion.[1] Treatment typically focuses on individual signs and symptoms when possible.[4]
Last updated: 4/18/2016

References

  1. Victor A. McKusick. CHROMOSOME 15q13.3 DELETION SYNDROME. In: Ada Hamosh. OMIM. 5/26/2015; http://www.ncbi.nlm.nih.gov/omim/612001.
  2. Hassfurther A., Komini E., Fischer J., Leipoldt M.. Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome. Mol Syndromol. Feb 2016; 6(5):222-228. http://www.ncbi.nlm.nih.gov/pubmed/26997942.
  3. 15q13.3 microdeletion syndrome. Unique: Rare Chromosome Disorder Support Group. 2013; http://www.rarechromo.org/information/Chromosome%2015/15q13.3%20microdeletion%20syndrome%20FTNW.pdf.
  4. Bregje WM van Bon, Heather C Mefford, Bert BA de Vries. 15q13.3 Microdeletion. GeneReviews. July 23, 2015; http://www.ncbi.nlm.nih.gov/books/NBK50780/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 15q13.3 microdeletion syndrome. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 15q13.3 microdeletion syndrome.

In Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on 15q13.3 microdeletion syndrome. 
  • 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 15q13.3 microdeletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 15q13.3 deletion syndrome
  • Microdeletion 15q13.3 syndrome
  • Chromosome 15q13.3 microdeletion syndrome
  • 15q13.3 microdeletion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.