Chromosome 5p duplication
Type of disease: Congenital onset | Rare conditions
Chromosome 5p duplication is a chromosome abnormality that occurs when there is extra genetic material on the short arm (p arm) of chromosome 5. Chromosomes are the structures that hold our DNA, which contains the instructions, called genes, which tell our bodies how to develop and function. Each chromosome has two sections, or arms. The shorter arm is called the p arm, and the longer arm is called the q arm. People with a chromosome 5p duplication have a total of three copies of a specific segment on the p arm (i.e. a copy from their mother, a copy from their father, and a copy occurring as a result of the duplication). Duplications can happen anywhere within the 5p region; signs and symptoms depend on the specific location of the duplication.
For general information on chromosomes, click here.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.