Disease or Syndrome
Patau syndrome
Also called:
Trisomy 13; Trisomy D
Definitions related to patau syndrome:
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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.NCIU.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., 2025
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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, 2025
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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., 2025
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