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

The translationally relevant mouse model of the 15q13.3 microdeletion syndrome reveals deficits in neuronal spike firing matching clinical neurophysiological biomarkers seen in schizophrenia.
 

Author(s): J Thelin, P Halje, J Nielsen, M Didriksen, P Petersson, J F Bastlund

Journal: Acta Physiol (Oxf). 2017 May;220(1):124-136.

 

To date, the understanding and development of novel treatments for mental illness is hampered by inadequate animal models. For instance, it is unclear to what extent commonly used behavioural tests in animals can inform us on the mental and affective aspects of schizophrenia.

Last Updated: 31 Dec 1969

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A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.
 

Author(s): Simon R O Nilsson, Pau Celada, Kim Fejgin, Jonas Thelin, Jacob Nielsen, Noemí Santana, Christopher J Heath, Peter H Larsen, Vibeke Nielsen, Brianne A Kent, Lisa M Saksida, Tine B Stensbøl, Trevor W Robbins, Jesper F Bastlund, Timothy J Bussey, Francesc Artigas, Michael Didriksen

Journal: Psychopharmacology (Berl.). 2016 06;233(11):2151-63.

 

A microdeletion at locus 15q13.3 is associated with high incidence rates of psychopathology, including schizophrenia. A mouse model of the 15q13.3 microdeletion syndrome has been generated (Df[h15q13]/+) with translational utility for modelling schizophrenia-like pathology. Among ...

Last Updated: 31 Dec 1969

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Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
 

Author(s): Emeline Crutcher, May Ali, John Harrison, Judit Sovago, Baltazar Gomez-Mancilla, Christian P Schaaf

Journal: J Autism Dev Disord. 2016 Apr;46(4):1455-63.

 

15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford-Binet) are suitable for assessment of cognitive function ...

Last Updated: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.