假三体13综合征：1例报告。

Pseudo-trisomy 13 syndrome: report of one case.

作者信息

Tsai F J, Tsai C H

机构信息

Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.

出版信息

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Nov-Dec;33(6):441-5.

PMID:1306929

Abstract

A new syndrome associated with holoprosencephaly, midline facial defects and postaxial polydactyly but normal chromosomes was described. The term "pseudo-trisomy 13 syndrome" was used because of the resemblance to trisomy 13. Only a few cases have appeared in the literature, and this is the first chinese case.

摘要

一种与前脑无裂畸形、中线面部缺陷和轴后多指畸形相关但染色体正常的新综合征被描述。由于与13三体综合征相似，故使用“假13三体综合征”这一术语。文献中仅出现了少数病例，而这是首例中国病例。