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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Chromosome 13, trisomy 13 complete
  • Complete trisomy 13 syndrome
  • D trisomy syndrome (formerly)
  • Patau syndrome
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Trisomy 13, also called Patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.[1][2][3] The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body. Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents.[2][3] Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only about 5-10 percent of children with this condition live past their first year.[2]
Last updated: 1/9/2012


  1. Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; Accessed 10/13/2009.
  2. Trisomy 13. Genetics Home Reference (GHR). 2009; Accessed 10/13/2009.
  3. Chambers D. Trisomy 13. MedlinePlus. 2009; Accessed 10/13/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Trisomy 13. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Trisomy 13. Click on the link to view a sample search on this topic.

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