通过荧光原位杂交技术产前诊断出的患有X染色体五体（49,XXXXX）的胎儿中的丹迪-沃克畸形。
Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique.
作者信息
Myles T D, Burd L, Font G, McCorquodale M M, McCorquodale D J
机构信息
Department of Maternal Fetal Medicine, University of Illinois at Chicago 60612-7313, USA.
出版信息
Fetal Diagn Ther. 1995 Sep-Oct;10(5):333-36. doi: 10.1159/000264254.
PMID:7576173
Abstract
We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.
摘要
我们报告一例产前诊断为X染色体五体（49,XXXXX）的病例。荧光原位杂交技术辅助做出了诊断。该胎儿发现的问题包括Dandy-Walker畸形、脑积水、室间隔缺损、眼距过宽和羊水过多。
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