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- Case Report 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
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Journal of Pathology and Translational Medicine 2002;36(5):338-340
DOI: https://doi.org/
2Department of Obstetrics and Gynecology, College of Medicine, Hallym University, Chuncheon, Korea.
3Department of Obstetrics and Gynecology, Pohang Christian Hospital, Pohang, Korea.
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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.
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