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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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Your Question

My daughter was diagnosed with 15q13.3 microdeletion syndrome. Her father was also diagnosed with this condition, but her siblings have not been tested. Her paternal uncle has dyslexia and her paternal grandmother has seizures. How rare is this condition? Would it be beneficial for my husband's family members or my daughter's siblings to be tested?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

How rare is 15q13.3 microdeletion syndrome?

The first published description of a person with a 15q13.3 microdeletion was in 2008 and there have since been over 50 individuals reported with this condition in the medical literature worldwide. However, it is estimated that one person in every 40,000 in the general population has a 15q13.3 microdeletion. There have been several adults reported that have no major birth defects and appear healthy, and only discovered the microdeletion after it was detected in their children. Furthermore, it is likely that there may be healthy individuals with no signs or symptoms, or individuals with only one symptom (such as epilepsy or mental illness) that have not been tested for the presence of this microdeletion.[3]
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

Would it be beneficial for other family members to be tested for this condition?

Genetic testing has potential benefits, risks and limitations whether the results are positive or negative. Test results can provide a sense of relief from uncertainty or worry and help people make informed decisions about managing their health care. A positive result can give a diagnosis if someone has symptoms and direct a person toward available resources about the condition. An adult that is found to have the microdeletion but does not have any signs or symptoms can still pass the microdeletion on to his/her children, who may show signs of the condition.[4][5] Test results can help people make decisions about having children, such as avoiding having a child with the condition or testing a fetus at risk during pregnancy.[4] Limitations of testing for this condition include the difficulty in interpreting a positive result because some people, or fetuses, that are found to have the microdeletion may never have a sign or symptom of the condition.[6]

Whether to have genetic testing is a personal decision; individuals have many different reasons for being tested or not being tested for the presence of a genetic condition.[5] To read more about the benefits of genetic testing click here. To read more about the risks and limitations of genetic testing click here.
Last updated: 12/20/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013