Other Names for this Disease
- Patau syndrome
- Chromosome 13, trisomy 13 complete
- Complete trisomy 13 syndrome
- D trisomy syndrome (formerly)
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chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some affected people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as congenital heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). Most cases are not inherited and result from a random error during the formation of eggs or sperm in healthy parents. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life.Trisomy 13 is a type of
Last updated: 3/17/2016
- Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/trisomy-13-syndrome/.
- Trisomy 13. Genetics Home Reference (GHR). November 2013; http://ghr.nlm.nih.gov/condition/trisomy-13.
- Haldeman-Englert C. Trisomy 13. MedlinePlus. September 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm.
- 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) 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Trisomy 13. Click on the link to view a sample search on this topic.