Definition of Syndrome, trisomy 13
Syndrome, trisomy 13: 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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