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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 1p duplication


Other Names for this Disease
  • 1p duplication
  • 1p trisomy
  • Duplication 1p
  • Partial trisomy 1p
  • Trisomy 1p
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 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. 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 1p 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: 5/7/2015

References

  1. Piccione M, Antona V, Antona R, Gambino G, Pierluigi M, Malacarne M, Cavani S, Corsello G. Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features. Am J Med Genet A. February 2010; 152A(2):486-489.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 1p duplication. This website is maintained by the National Library of Medicine.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1p duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 1p duplication
  • 1p trisomy
  • Duplication 1p
  • Partial trisomy 1p
  • Trisomy 1p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.