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

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.
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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

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Caroline Bohec, Nathalie Douet-Guilbert, Audrey Basinko, Marie-Josée Le Bris, Pascale Marcorelles, et al.. Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.. Fetal and Pediatric Pathology, Informa Healthcare, 2010, 29 (6), pp.424-30. ⟨10.3109/15513815.2010.505630⟩. ⟨hal-00927616⟩

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