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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 5p duplication


Other Names for this Disease
  • 5p duplication
  • 5p trisomy
  • Duplication 5p
  • Duplication of the short arm of chromosome 5
  • Partial trisomy 5p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1] Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.  


Last updated: 6/29/2015

References

  1. Chromosome 5, Trisomy 5p. NORD. 2013; http://rarediseases.org/rare-diseases/chromosome-5-trisomy-5p/.
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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.
Other Names for this Disease
  • 5p duplication
  • 5p trisomy
  • Duplication 5p
  • Duplication of the short arm of chromosome 5
  • Partial trisomy 5p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.