Chromosome 3p duplication

Overview

Type of disease: Congenital onset | Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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