Hoang M P, Wilson K S, Schneider N R, Timmons C F
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, USA.
Pediatr Dev Pathol. 1999 Jan-Feb;2(1):58-61. doi: 10.1007/s100249900090.
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.
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。
