16p11.2 deletion syndrome

Common Name(s)

16p11.2 deletion syndrome

16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "16p11.2 deletion 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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Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

Last Updated: 20 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "16p11.2 deletion 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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Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

http://www.simonsvipconnect.org

Last Updated: 20 Jul 2015

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 "16p11.2 deletion syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
 

Author(s): Thomas Portmann, Mu Yang, Rong Mao, Georgia Panagiotakos, Jacob Ellegood, Gul Dolen, Patrick L Bader, Brad A Grueter, Carleton Goold, Elaine Fisher, Katherine Clifford, Pavitra Rengarajan, David Kalikhman, Darren Loureiro, Nay L Saw, Zhou Zhengqui, Michael A Miller, Jason P Lerch, R Mark Henkelman, Mehrdad Shamloo, Robert C Malenka, Jacqueline N Crawley, Ricardo E Dolmetsch

Journal: Cell Rep. 2014 May;7(4):1077-92.

 

A deletion on human chromosome 16p11.2 is associated with autism spectrum disorders. We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput single-cell transcriptomics revealed anatomical and cellular abnormalities, particularly in cortex and striatum of juvenile ...

Last Updated: 26 May 2014

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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
 

Author(s): Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy, Christine Francannet

Journal: Eur. J. Hum. Genet.. 2014 Mar;22(3):369-73.

 

With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes ...

Last Updated: 13 Feb 2014

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
 

Author(s): Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont, ,

Journal: J. Med. Genet.. 2012 Oct;49(10):660-8.

 

The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders.

Last Updated: 11 Oct 2012

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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 "16p11.2 deletion 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.