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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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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]

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Last updated: 11/29/2011


  1. Chromosomes and Rare Chromosome Disorders in General. Unique. September 2009; Accessed 11/29/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 5p duplication. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 5p duplication. Click on the link to view a sample search on this topic.