Other Names for this Disease
- Chromosome 13, trisomy 13 complete
- Complete trisomy 13 syndrome
- D trisomy syndrome (formerly)
- Patau syndrome
mosaic trisomy 13), whereas other cells contain the normal chromosomal pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as 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 random errors 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, also called Patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (a trisomy) rather than twice in cells of the body. In some affected people, only a portion of cells may contain the extra chromosome 13 (called
Last updated: 1/20/2015
- Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trisomy%2013%20Syndrome. Accessed 10/13/2009.
- Trisomy 13. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=trisomy13. Accessed 10/13/2009.
- Chambers D. Trisomy 13. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm. Accessed 10/13/2009.
- 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.
- Medscape Reference provides information on this topic. 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.