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The condition of having three copies of chromosome 13 that results in a syndrome characterized by severe congenital malformations including craniofacial and cardiac defects, structural brain abnormalities, and polydactyly. Also called Patau syndrome.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
trisomy 13Patau syndrome, D1 trisomy syndrome Genetics A congenital defect due to an extra copy of chromosome 13 Clinical Findings in ≥ 50% of Pts: Holoprosencephaly with incomplete development of forebrain and olfactory and optic nerves, accompanied by minor motor seizures, apneic spells, and profound mental defect, microcephaly, deafness, microphthalmia, retinal dysplasia, cleft lip and palate, abnormal helices ± low-set ears, polydactyly, simian crease, pelvic hypoplasia, cardiac defects present in 80% of Pts, including ventricular and/or atrial septal defect, dextroposition of great vessels, cryporchidism, bicornuate uterus, inguinal or umbilical hernias, persistence of embryonic or fetal Hbs Incidence 1:5–15,000 births Prognosis Death usually by age 2
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
trisomy 13The presence of three copies of chromosome 13. Patau syndrome. There is microcephaly, cleft lip or palate, deafness, blindness, extra fingers and finger deformity. Such infants rarely survive for more than a few weeks
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005