Chromosome 3p duplication

Common Name(s)

Chromosome 3p duplication

Chromosome 3, trisomy 3p is a chromosome abnormality characterized by an individual having an extra copy of one of the short arms (or part of the short arm) of chromosome 3 (3p), thus having 3 copies (a trisomy) of the chromosome segment involved instead of the normal two copies. The most common features associated with the condition are intellectual disabilities; slow psycho-motor development; broad head (brachycephaly); prominent forehead (frontal bossing); square-shaped face; wide-set eyes (hypertelorism); epicanthic folds; full cheeks; short prominent philtrum; micrognathia and retrognathia; short neck; and congenital heart defects. Depending on the nature and severity of features, life expectancy may be shortened. The presence of an extra copy of specific genes causes the features of the condition. It is usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 3p duplication" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.