Korean J Pathol.  2002 Oct;36(5):338-340.

Partial Trisomy 13 (Patau Syndrome): An Autopsy Report

Affiliations
  • 1Department of Pathology, College of Medicine, Hallym University, Chuncheon, Korea. kcchoi@hallym.ac.kr
  • 2Department of Obstetrics and Gynecology, College of Medicine, Hallym University, Chuncheon, Korea.
  • 3Department of Obstetrics and Gynecology, Pohang Christian Hospital, Pohang, Korea.

Abstract

Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features of Patau syndrome. He was terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal analysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13) dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother's karyotype was 46,XX, inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultrasonography showed fluid-nature content, which was occupying the entire intracranium, but preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosencephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and a single umbilical artery.

Keyword

Autopsy; Trisomy; Holoprosencephaly; Karyotyping

MeSH Terms

Adult
Anophthalmos
Autopsy*
Brain Stem
Cerebellum
Fathers
Fetus
Gestational Age
Heart Septal Defects, Ventricular
Holoprosencephaly
Humans
Hydrocephalus
Karyotype
Karyotyping
Male
Mothers
Single Umbilical Artery
Trisomy*
Ultrasonography
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