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Diseases

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



What is 15q13.3 microdeletion syndrome?

Is genetic testing available for 15q13.3 microdeletion syndrome?


What is 15q13.3 microdeletion syndrome?

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

Is genetic testing available for 15q13.3 microdeletion syndrome?

Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you.
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.