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Title
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Bladder exstrophy-epispadias complex and triple-X syndrome : incidental finding or causality?
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Author
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Abstract
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| 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. (C) 2014 Wiley Periodicals, Inc. |
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Language
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English
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Source (journal)
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Birth defects research: part A : clinical and molecular teratology. - Bognor Regis, 2003 - 2016
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Publication
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Bognor Regis
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2014
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ISSN
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1542-0752
[print]
1542-0760
[online]
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DOI
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10.1002/BDRA.23299
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Volume/pages
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100
:10
(2014)
, p. 797-800
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ISI
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000344343100009
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Pubmed ID
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25200913
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Full text (Publisher's DOI)
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