一名22周龄胎儿核型为47,XXX且伴有多处中胚层下缺陷的病例报告。

Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects.

作者信息

Hoang M P, Wilson K S, Schneider N R, Timmons C F

机构信息

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, USA.

出版信息

Pediatr Dev Pathol. 1999 Jan-Feb;2(1):58-61. doi: 10.1007/s100249900090.

DOI:10.1007/s100249900090

PMID:9841707

Abstract

A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic ovaries, and uterine hypoplasia. This case provides additional evidence for an association between trisomy X and genitourinary defects including lower mesodermal defects sequence.

摘要

一名核型为47,XXX的22周死产胎儿存在中胚层下部缺陷，包括骶椎不规则融合、肛门闭锁、马蹄肾多囊性发育异常、单脐动脉、卵巢发育异常和子宫发育不全。该病例为X三体与泌尿生殖系统缺陷（包括中胚层下部缺陷序列）之间的关联提供了更多证据。