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 the P2RY12 gene and its related conditions. 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. 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.