Short Arm Syndrome

Common Name(s)

Short Arm Syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Short Arm Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Short Arm Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome.
 

Author(s): Carolyn Bondy, Vladimir K Bakalov, Clara Cheng, Laura Olivieri, Douglas R Rosing, Andrew E Arai

Journal: J. Med. Genet.. 2013 Oct;50(10):662-5.

 

Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has ...

Last Updated: 18 Sep 2013

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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
 

Author(s): O Bartsch, W Wuyts, W Van Hul, J T Hecht, P Meinecke, D Hogue, W Werner, B Zabel, G K Hinkel, C M Powell, L G Shaffer, P J Willems

Journal: Am. J. Hum. Genet.. 1996 Apr;58(4):734-42.

 

A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients ...

Last Updated: 18 Jul 1996

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Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.
 

Author(s): C A Stratakis, J A Carney, J P Lin, D A Papanicolaou, M Karl, D L Kastner, E Pras, G P Chrousos

Journal: J. Clin. Invest.. 1996 Feb;97(3):699-705.

 

Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. The genetic defect(s) responsible for the complex remain(s) unknown. We studied 101 subjects, including 51 affected members, ...

Last Updated: 29 May 1996

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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 "Short Arm 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.