Partial Trisomy 13 (Patau Syndrome): An Autopsy Report
최경찬, 신형식, 박영의, Seo Jung-Lae, 이성원, 노의선, 김용필,
소속 상세정보
최경찬 ( Choi Kyung-Chan )
한림대학교 의과대학 병리학교실
신형식 ( Shin Hyung-Sik )
한림대학교 의과대학 병리학교실
박영의 ( Park Young-Euy )
한림대학교 의과대학 병리학교실
( Seo Jung-Lae )
한림대학교 의과대학 산부인과학교실
이성원 ( Lee Sung-Won )
한림대학교 의과대학 산부인과학교실
노의선 ( Ro Eu-Sun )
한림대학교 의과대학 산부인과학교실
김용필 ( Kim Yong-Pil )
포항성모병원 산부인과
KMID : 0357920020360050338
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.
키워드
Autopsy;Trisomy;Holoprosencephaly;Karyotyping
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