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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 5p duplication


Other Names for this Disease
  • 5p duplication
  • 5p trisomy
  • Duplication 5p
  • Partial trisomy 5p
  • Trisomy 5p
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Overview



What is a chromosome 5p duplication?

What causes a chromosome 5p duplication?


What is a chromosome 5p duplication?

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.[1]

For general information on chromosomes, click here.
Last updated: 11/29/2011

What causes a chromosome 5p duplication?

The exact cause is unknown; but in most cases, 5p duplications appears to be caused by random (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. You will need to speak with a genetics professional about how a specific chromosome abnormality might be inherited in your family.[2]
Last updated: 11/29/2011

References
  1. Chromosomes and Rare Chromosome Disorders in General. Unique. September 2009; http://www.rarechromo.org/html/ChromosomesAndDisorders.asp. Accessed 11/29/2011.
  2. Chromosome 5, Trisomy 5p. NORD. 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/990/viewAbstract. Accessed 11/29/2011.