Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
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膀胱外翻-尿道上裂复合体和 Triple-X 综合征：偶然发现还是因果关系？
DOI：
10.1002/bdra.23299
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Parizel M
中科院分区：
文献类型：
--
作者：
Ramaekers P;Loeys B;von Lowtzow C;Reutter H;Jacquemyn Y;Leroy Y;Colpaert C;Parizel M
背景膀胱外翻是一种罕见的畸形。产前诊断通常是常规超声检查的偶然发现。三重X综合征(核型47，XXX)是活产女性中最常见的性染色体非整倍体(约1/1000)。三重X染色体核型的产前诊断通常是因其他原因进行侵入性产前诊断时的偶然发现。鉴于文献中关于这种关联的两个报告，应该考虑这两种情况之间的因果关系。结论基因剂量效应可能是潜在的机制。出生缺陷研究(A部分)100：797-800,2014。©2014 Wiley期刊，Inc.
BackgroundBladder 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.MethodsPrenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons.ResultsHere, 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.ConclusionA gene dosage effect as possible underlying mechanisms will be discussed. Birth Defects Research (Part A) 100:797–800, 2014. © 2014 Wiley Periodicals, Inc.
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