2q37 deletion syndrome

Common Name(s)

2q37 deletion syndrome, Chromosome 2q37 deletion syndrome, Brachydactyly-mental retardation syndrome

2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2q37 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2q37 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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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 "2q37 deletion syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
 

Author(s): Yasunari Sakai, Ryota Souzaki, Hidetaka Yamamoto, Yuki Matsushita, Hazumu Nagata, Yoshito Ishizaki, Hiroyuki Torisu, Yoshinao Oda, Tomoaki Taguchi, Chad A Shaw, Toshiro Hara

Journal:

 

2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, ...

Last Updated: 3 Jun 2014

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
 

Author(s): Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie-José Grégoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie-Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin-Robinet, Stéphanie Arpin, Cedric Le Caignec, Philippe Jonveaux, Mylène Beri, Nathalie Leporrier, Jacques Motte, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco-Fenzy

Journal: Eur. J. Hum. Genet.. 2013 Jun;21(6):602-12.

 

The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ...

Last Updated: 16 May 2013

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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
 

Author(s): Eduardo Fernández-Rebollo, Olga Pérez, Cristina Martinez-Bouzas, Maria Carmen Cotarelo-Pérez, Intza Garin, Jose Luis Ruibal, Gustavo Pérez-Nanclares, Luis Castaño, Guiomar Pérez de Nanclares

Journal: Eur. J. Endocrinol.. 2009 Apr;160(4):711-7.

 

The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established.

Last Updated: 31 Mar 2009

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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 "2q37 deletion 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.