22q13.3 Deletion Syndrome

Common Name(s)

22q13.3 Deletion Syndrome

22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "22q13.3 Deletion Syndrome" for support, advocacy or research.

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General Support Organizations

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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 "22q13.3 Deletion Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
 

Author(s): S U Dhar, D del Gaudio, J R German, S U Peters, Z Ou, P I Bader, J S Berg, M Blazo, C W Brown, B H Graham, T A Grebe, S Lalani, M Irons, S Sparagana, M Williams, J A Phillips, A L Beaudet, P Stankiewicz, A Patel, S W Cheung, T Sahoo

Journal: Am. J. Med. Genet. A. 2010 Mar;152A(3):573-81.

 

The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization ...

Last Updated: 1 Mar 2010

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Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.
 

Author(s): Anne Philippe, Nathalie Boddaert, Laurence Vaivre-Douret, Laurence Robel, Laurent Danon-Boileau, Valérie Malan, Marie-Christine de Blois, Delphine Heron, Laurence Colleaux, Bernard Golse, Monica Zilbovicius, Arnold Munnich

Journal: Pediatrics. 2008 Aug;122(2):e376-82.

 

The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases ...

Last Updated: 4 Aug 2008

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Deletion 22q13.3 syndrome.
 

Author(s): Mary C Phelan

Journal:

 

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. ...

Last Updated: 13 Jun 2008

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Reviews from the PubMed Database

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The terms "22q13.3 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

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
 

Status: Recruiting

Condition Summary: 22q13 Deletion Syndrome; Phelan-McDermid Syndrome

 

Last Updated: 17 Dec 2013

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Last Updated: 27 Jun 2014

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