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The Korean Journal of Pathology 2002;36(5): 338-340.
Partial Trisomy 13 (Patau Syndrome): An Autopsy Report.
Kyung Chan Choi, Hyung Sik Shin, Young Euy Park, Jung Lae Seo, Sung Won Lee, Eu Sun Ro, Yong Pil Kim
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.
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.
Key Words: Autopsy; Trisomy; Holoprosencephaly; Karyotyping