Disease or Syndrome
Patau syndrome
Also called:
Trisomy 13; Trisomy D
Definitions related to patau syndrome:
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Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). 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 five percent to 10 percent of children with this condition live past their first year.MedlinePlus GeneticsU.S. National Library of Medicine, 2021
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(complete trisomy 13 syndrome) A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. Diagnosis is with cytogenetic testing. Treatment is supportive.Merck & Co., Inc., 2020
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Patau syndrome is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days.WebMD, 2019
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Trisomy 13 is a type of 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...National Center for Advancing Translational Sciences
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Trisomy 13, human chromosomal disorder that results from an extra (third) copy of chromosome 13. Infants born with this disorder have profound mental retardation and severe developmental malformations that include a small head, a cleft palate and lip, tiny eyes and eye openings, extra digits on h...Encyclopedia Britannica, Inc., 2020
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