Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Birth Defects Res A Clin Mol Teratol
; 100(10): 797-800, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-25200913
ABSTRACT
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Extrofia Vesical
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Epispadia
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Dosagem de Genes
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Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article