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单绒毛膜双卵双胎伴血液嵌合体及性别不一致。

Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

作者信息

Smeets Dominique, van Vugt John M G, Gomes Ingrid, van den Heuvel Simone, van Heijst Arno, Reuss Annette, Claahsen-van der Grinten Hedi L

机构信息

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

出版信息

Twin Res Hum Genet. 2013 Aug;16(4):799-801. doi: 10.1017/thg.2013.41. Epub 2013 Jun 17.

DOI:10.1017/thg.2013.41
PMID:23769301
Abstract

Monochorionic dizygous twins are probably more frequent than considered previously as many cases remain unrecognized, especially when the children have the same sex. Here we present a pair of dizygous, sex-discordant monochorionic twins who were conceived after artificial insemination. Histological examination of the placenta and extensive genetic studies of the healthy boy and girl clearly proved that they indeed were monochorionic dizygous twins with a fully joined blood circulation. We conclude that when counseling parents expecting monochorionic twins of discordant sex, not only a disorder of sexual differentiation in one of the twins should be addressed but also the possibility of dizygosity with a completely normal (sexual) development of both children.

摘要

单绒毛膜双卵双胎可能比之前认为的更为常见,因为许多病例未被识别出来,尤其是当两个孩子性别相同时。在此,我们报告一对经人工授精受孕的双卵、性别不同的单绒毛膜双胎。对胎盘进行组织学检查,并对健康的男孩和女孩进行广泛的基因研究,明确证实他们确实是单绒毛膜双卵双胎,且血液循环完全相通。我们得出结论,在为怀有性别不同的单绒毛膜双胎的父母提供咨询时,不仅要考虑其中一个胎儿性分化异常的情况,还要考虑两个孩子性发育完全正常的双卵双胎的可能性。

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Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice.
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Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI.体外受精/卵胞浆内单精子注射后双卵双胎、单绒毛膜双胎的产前诊断
Geburtshilfe Frauenheilkd. 2016 Jun;76(6):727-730. doi: 10.1055/s-0042-101024.
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