Trisomy 13 syndrome

Trisomy 13 syndrome
Condition with three rather than the normal two chromosomes #13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome #13. The congenital malformations (birth defects) commonly include scalp defects, hemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The IQ is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called Patau syndrome after the late geneticist Klaus Patau (at the University of Wisconsin) who discovered the extra chromosome in 1960.

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a chromosome aberration in which an extra chromosome 13 causes severe central nervous system defects, such as arhinencephalia and holoprosencephaly, and mental retardation, together with cleft palate and lip, polydactyly, dermal pattern anomalies, and abnormalities of the heart, viscera, and genitalia. Called also Patau s.

Medical dictionary. 2011.

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