Chromosome 18, Tetrasomy 18p

Common Name(s)

Chromosome 18, Tetrasomy 18p, Chromosome 18p tetrasomy, Tetrasomy 18p

Tetrasomy 18p is a chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body.  The symptoms of tetrasomy 18p vary from case to case but may include craniofacial abnormalities; malformations of the spine, hands, or feet; neuromuscular abnormalities; kidney malformations; moderate to severe mental retardation; limitations in speech; and/or behavioral abnormalities. In most cases, tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 18, Tetrasomy 18p" for support, advocacy or research.

The Chromosome 18 Registry & Research Society

Our mission is to help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy, and productive lives.

http://www.chromosome18.org

Last Updated: 11 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 18, Tetrasomy 18p" for support, advocacy or research.

The Chromosome 18 Registry & Research Society

Our mission is to help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy, and productive lives.

http://www.chromosome18.org

Last Updated: 11 Apr 2013

View Details

 

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 "Chromosome 18, Tetrasomy 18p" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome 18, Tetrasomy 18p" 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.