15q13.3 Microdeletion Syndrome

Common Name(s)

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. It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes; 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. Treatment typically focuses on individual signs and symptoms (such as medication for seizures) when possible.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "15q13.3 Microdeletion Syndrome" for support, advocacy or research.

Unique - Rare Chromosome Disorder Support Group

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "15q13.3 Microdeletion Syndrome" for support, advocacy or research.

Unique - Rare Chromosome Disorder Support Group

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2013

View Details

 

General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "15q13.3 Microdeletion Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.
 

Author(s): Hiltrud Muhle, Heather C Mefford, Tanja Obermeier, Sarah von Spiczak, Evan E Eichler, Ulrich Stephani, Thomas Sander, Ingo Helbig

Journal: Epilepsia. 2011 Dec;52(12):e194-8.

 

15q13.3 microdeletions are the most common genetic findings identified in idiopathic generalized epilepsies to date, and they are present in up to 1% of patients. In addition, 15q13.3 microdeletions have been described in patients with epilepsy as part of a complex neurodevelopmental ...

Last Updated: 5 Dec 2011

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
 

Author(s): Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E Stevenson, Richard J Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Catalin Barbacioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M Cooper, Samantha J L Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E Schwartz, Evan E Eichler

Journal: Nat. Genet.. 2008 Mar;40(3):322-8.

 

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two ...

Last Updated: 28 Feb 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "15q13.3 Microdeletion Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.