Birth defects research. Part A, Clinical and molecular teratology · 2014
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ramaekers Paul, Loeys Bart, von Lowtzow Catharina, Reutter Heiko, Leroy Yves, Colpaert Cécile, Blaumeiser Bettina, Janssens Katrien, Parizel Maxim, Jacquemyn Yves
Аннотация
BACKGROUND: Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life.
METHODS: Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons.
RESULTS: Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered.
CONCLUSION: A gene dosage effect as possible underlying mechanisms will be discussed.
METHODS: Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons.
RESULTS: Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered.
CONCLUSION: A gene dosage effect as possible underlying mechanisms will be discussed.