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Genetic and Rare Diseases Information Center (GARD)

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15q13.3 microdeletion syndrome


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


15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion 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 mental retardation, learning difficulties, or normal intelligence; autism; 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] It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes;[3] the features of the syndrome are caused by the absence of these genes, which are usually necessary for normal growth and development. 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 (such as medication for seizures) when possible.
Last updated: 12/20/2010

References

  1. Cassandra L. Kniffin. CHROMOSOME 15q13.3 DELETION SYNDROME. OMIM. November 4, 2010; http://www.ncbi.nlm.nih.gov/omim/612001. Accessed 12/19/2010.
  2. Ben-Shachar S et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics. June 2009; 46(6):382-388. http://www.ncbi.nlm.nih.gov/pubmed/19289393. Accessed 12/19/2010.
  3. 15q13.3 microdeletion syndrome. Unique: Rare Chromosome Disorder Support Group. 2009; http://www.rarechromo.org/information/Chromosome%2015/15q13.3%20microdeletion%20syndrome%20FTNW.pdf. Accessed 12/19/2010.
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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

  • 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 15q13.3 microdeletion syndrome. Click on the link to view a sample search on this topic.