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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.

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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Fetal Diagn Ther. 1995 Sep-Oct;10(5):333-36. doi: 10.1159/000264254.
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引用本文的文献

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Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.无创产前筛查:通过血浆游离DNA和核型分析检测到X染色体五体的首例报告。
Diagnostics (Basel). 2022 Jun 29;12(7):1591. doi: 10.3390/diagnostics12071591.
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A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.一例因母亲减数分裂1和2期不分离导致的五X综合征病例。
Clin Case Rep. 2017 Jun 1;5(7):1136-1140. doi: 10.1002/ccr3.1004. eCollection 2017 Jul.
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A new case of prenatally diagnosed pentasomy x: review of the literature.
一例产前诊断的X染色体五体综合征新病例:文献综述
Case Rep Obstet Gynecol. 2015;2015:935202. doi: 10.1155/2015/935202. Epub 2015 Jan 29.
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Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.49,XXXXY五体综合征中X染色体失活的详细分析。
Mol Cytogenet. 2009 Oct 7;2:20. doi: 10.1186/1755-8166-2-20.