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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 17p duplication


Other Names for this Disease
  • Duplication 17p
  • Trisomy 17p
  • 17p duplication
  • 17p trisomy
  • Partial trisomy 17p
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Overview

Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. 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 17p duplication include slowed growth both before and after birth; developmental delay; reduced muscle tone (hypotonia); congenital heart defects; and distinctive facial features.[1][2] 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: 12/17/2015

References

  1. Trisomy 17p. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19869&Disease_Disease_Search_diseaseGroup=Trisomy-17p&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Trisomy-17p&title=Trisomy-17p&search=Disease_Search_Simple.
  2. Duplications of 17p. Unique. 2005; http://www.rarechromo.org/information/Chromosome%2017/17p%20duplications%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 17p duplication. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about Duplications of 17p.

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 17p duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 17p
  • Trisomy 17p
  • 17p duplication
  • 17p trisomy
  • Partial trisomy 17p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.