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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Fetal and Pediatric Pathology, Informa Healthcare, 2010, 29 (6), pp.424-30. 〈10.3109/15513815.2010.505630〉
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http://hal.univ-brest.fr/hal-00927616
Contributeur : Ghislaine Calvez <>
Soumis le : lundi 13 janvier 2014 - 12:59:54
Dernière modification le : mardi 30 janvier 2018 - 10:42:01

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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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