Partial Trisomy 13 (Patau Syndrome): An Autopsy Report.
- Author:
Kyung Chan CHOI
1
;
Hyung Sik SHIN
;
Young Euy PARK
;
Jung Lae SEO
;
Sung Won LEE
;
Eu Sun RO
;
Yong Pil KIM
Author Information
1. Department of Pathology, College of Medicine, Hallym University, Chuncheon, Korea. kcchoi@hallym.ac.kr
- Publication Type:Case Report
- Keywords:
Autopsy;
Trisomy;
Holoprosencephaly;
Karyotyping
- MeSH:
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
- From:Korean Journal of Pathology
2002;36(5):338-340
- CountryRepublic of Korea
- Language:English
-
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.
