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: 4 Mar 2015

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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: 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 "Microdeletion 15q11.2" returned 4 free, full-text research articles on human participants. First 3 results:

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
 

Author(s): Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2017 Feb;56(1):93-97.

 

We present recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in a family with phenotypic variability in developmental, speech, and motor delay.

Last Updated: 3 Mar 2017

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A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression.
 

Author(s): Ying Zhang, Bingrui Zhou, Xiaodi Zhang, Qiong Xu, Xiu Xu

Journal: Psychiatr. Genet.. 2015 Feb;25(1):43-4.

 

Last Updated: 20 Dec 2014

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[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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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 1 free, full-text review articles on human participants. First 3 results:

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
 

Author(s): Devin M Cox, Merlin G Butler

Journal:

 

Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1-BP2 microdeletion involving ...

Last Updated: 18 Feb 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.