1p36 Deletion Syndrome

Common Name(s)

1p36 Deletion Syndrome, Chromosome 1p36 Deletion Syndrome

1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "1p36 Deletion Syndrome" for support, advocacy or research.

1p36 Deletion Support & Awareness

Our mission is to help individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy and productive lives. We do this by providing support and education to their families and increasing awareness of chromosome 1p36 abnormalities in the public and medical communities.

http://www.1p36dsa.org/

Last Updated: 2 Mar 2013

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Unique - Rare Chromosome Disorder Support Group

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 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "1p36 Deletion Syndrome" for support, advocacy or research.

1p36 Deletion Support & Awareness

Our mission is to help individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy and productive lives. We do this by providing support and education to their families and increasing awareness of chromosome 1p36 abnormalities in the public and medical communities.

http://www.1p36dsa.org/

Last Updated: 2 Mar 2013

View Details
Unique - Rare Chromosome Disorder Support Group

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 2013

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 "1p36 Deletion Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.
 

Author(s): Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino

Journal:

 

Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely reported. However, the presence of a typical Prader-Willi-like phenotype ...

Last Updated: 7 Feb 2014

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Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
 

Author(s): Anne-Karin Arndt, Sebastian Schafer, Jorg-Detlef Drenckhahn, M Khaled Sabeh, Eva R Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A Werdich, Hermann Kalwa, Matthias Heinig, Robert F Padera, Katharina Wassilew, Julia Bluhm, Christine Harnack, Janine Martitz, Paul J Barton, Matthias Greutmann, Felix Berger, Norbert Hubner, Reiner Siebert, Hans-Heiner Kramer, Stuart A Cook, Calum A MacRae, Sabine Klaassen

Journal: Am. J. Hum. Genet.. 2013 Jul;93(1):67-77.

 

Deletion 1p36 syndrome is recognized as the most common terminal deletion syndrome. Here, we describe the loss of a gene within the deletion that is responsible for the cardiomyopathy associated with monosomy 1p36, and we confirm its role in nonsyndromic left ventricular noncompaction ...

Last Updated: 15 Jul 2013

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
 

Author(s): Agatino Battaglia, H Eugene Hoyme, Bruno Dallapiccola, Elaine Zackai, Louanne Hudgins, Donna McDonald-McGinn, Nadia Bahi-Buisson, Corrado Romano, Charles A Williams, Lisa L Brailey, Lisa L Braley, Sameer M Zuberi, John C Carey

Journal: Pediatrics. 2008 Feb;121(2):404-10.

 

Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians ...

Last Updated: 4 Feb 2008

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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 "1p36 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.