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Diseases

Genetic and Rare Diseases Information Center (GARD)

Triploidy


Other Names for this Disease
  • Triploid syndrome
  • Triploidy syndrome
  • Chromosome triploidy syndrome
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Overview

Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 10/11/2015

References

  1. Triploid Syndrome. National Organization for Rare Disorders. 2003; http://rarediseases.org/rare-diseases/triploid-syndrome/.
  2. Stanislawa Weremowicz, PhD. Congenital cytogenetic abnormalities. UpToDate. November 2014; Accessed 10/11/2015.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • 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 triploidy.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Triploidy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Triploid syndrome
  • Triploidy syndrome
  • Chromosome triploidy syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.