Microdeletion 15q11.2

Common Name(s)

Microdeletion 15q11.2

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microdeletion 15q11.2" 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: 21 Jul 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microdeletion 15q11.2" 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: 21 Jul 2014

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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 "Microdeletion 15q11.2" returned 2 free, full-text research articles on human participants. First 3 results:

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity].
 

Author(s): A Sempere Pérez, I Manchón Trives, I Palazón Azorín, L Alcaraz Más, E Pérez Lledó, F Galán Sánchez

Journal: An Pediatr (Barc). 2011 Jul;75(1):58-62.

 

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical ...

Last Updated: 22 Jun 2011

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
 

Author(s): Angela L Duker, Blake C Ballif, Erawati V Bawle, Richard E Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan Traylor, Bassem A Bejjani, Lisa G Shaffer, Jill A Rosenfeld, Allen N Lamb, Trilochan Sahoo

Journal: Eur. J. Hum. Genet.. 2010 Nov;18(11):1196-201.

 

Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) within the human chromosome region ...

Last Updated: 21 Oct 2010

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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 "Microdeletion 15q11.2" 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.