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 - Understanding Chromosome Disorders

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

Last Updated: 4 Mar 2015

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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 - Understanding Chromosome Disorders

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 2015

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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 5 free, full-text research articles on human participants. First 3 results:

Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
 

Author(s): Jeffrey H Kogan, Adam K Gross, Robert E Featherstone, Rick Shin, Qian Chen, Carrie L Heusner, Megumi Adachi, Amy Lin, Noah M Walton, Sosuke Miyoshi, Shinichi Miyake, Katsunori Tajinda, Hiroyuki Ito, Steven J Siegel, Mitsuyuki Matsumoto

Journal: J. Neurosci.. 2015 Dec;35(49):16282-94.

 

The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients. Here, ...

Last Updated: 15 Dec 2015

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Clinical utility gene card for: 15q13.3 microdeletion syndrome.
 

Author(s): Maria Tropeano, Joris Andrieux, Evangelos Vassos, David A Collier

Journal: Eur. J. Hum. Genet.. 2014 Nov;22(11):.

 

Last Updated: 16 Oct 2014

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Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.
 

Author(s): Jean-Baptiste Le Pichon, Shihui Yu, Nataliya Kibiryeva, William D Graf, Douglas C Bittel

Journal: Eur. J. Hum. Genet.. 2013 Oct;21(10):1093-9.

 

We identified a novel homozygous 15q13.3 microdeletion in a young boy, with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness, congenital hypotonia with areflexia, profound intellectual ...

Last Updated: 19 Sep 2013

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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 Genetics Home Reference.

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.