Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

Caroline Bohec; Nathalie Douet-Guilbert; Audrey Basinko; Marie-Josée Le Bris; Pascale Marcorelles; Marie-Pierre Audrézet; Rémi Tetefort; Karine Bages; Michel Collet; Frédéric Morel; Marc de Braekeleer

doi:10.3109/15513815.2010.505630

Journal articles

Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

Caroline Bohec ¹ Nathalie Douet-Guilbert ^{2, 3} Audrey Basinko ^{2, 3} Marie-Josée Le Bris Pascale Marcorelles ⁴ Marie-Pierre Audrézet ⁵ Rémi Tetefort Karine Bages Michel Collet ^{1, 6} Frédéric Morel ^{2, 3} Marc de Braekeleer ^{5, *}

* Corresponding author

1 BREST - Gynéco-Obs - Service de Gynécologie-Obstétrique

2 Génétique moléculaire et génétique épidémiologique

3 Laboratoire de cytogénétique [Brest]

4 CHU - AnaPath - CHRU Brest - Laboratoire d'Anatomo-Pathologie

5 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)

6 GETBO - Groupe d'Etude de la Thrombose de Bretagne Occidentale

Abstract : We report twins for whom ultrasound examinations revealed a Turner syndrome in the female fetus and a normal male fetus. A selective pregnancy termination was decided on the female fetus with hydrops. The death of both twins called in question the chorionic diagnosis. Amniotic fluid cytogenetic analysis revealed a 45,X karyotype in the female twin and a 47,XYY karyotype in the male twin. Molecular cytogenetic analysis on genital and renal cells showed different levels of 45,X/47,XYY mosaicism in both twins; molecular analysis on the amniocytes showed monozygosity. Monozygotic twins with discordant sex are very rare. This study showed the difficult diagnosis and management of a monochorionic twin pregnancy with discordant fetal sex.

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

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https://hal.univ-brest.fr/hal-00927616
Contributor : Ghislaine Calvez <>
Submitted on : Monday, January 13, 2014 - 12:59:54 PM
Last modification on : Thursday, November 29, 2018 - 4:09:30 PM

Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

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Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

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