Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.
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.
Department of Gynecology, Obstetrics and Reproductive Medicine, Centre Hospitalier Universitaire Brest, Brest, France.
Caroline
C
Bohec
Nathalie
N
Douet-Guilbert
Audrey
A
Basinko
Marie-Josée
MJ
Le Bris
Pascale
P
Marcorelles
Marie-Pierre
MP
Audrézet
Rémi
R
Tetefort
Karine
K
Bages
Michel
M
Collet
Frederic
F
Morel
Marc
M
De Braekeleer
D004200:Diseases in Twins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014424:Turner Syndrome / Q000235:genetics*; D014427:Twins / Q000235:genetics*; D014997:XYY Karyotype / Q000235:genetics*