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A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
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2014 (English)In: European journal of pediatric surgery, ISSN 0939-7248, E-ISSN 1439-359X, Vol. 24, no 4, 353-359 p.Article in journal (Refereed) Published
Abstract [en]

Introduction Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and Methods Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis. Results The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3-> qter and loss in region Xp22.12->pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister. Conclusion Our findings suggest an X-linked genetic risk factor for bladder exstrophy.

Place, publisher, year, edition, pages
2014. Vol. 24, no 4, 353-359 p.
Keyword [en]
array-CGH, bladder exstrophy, MID1, SHOX, X chromosome rearrangement
National Category
Pediatrics
Identifiers
URN: urn:nbn:se:uu:diva-236098DOI: 10.1055/s-0033-1349056ISI: 000343012600019OAI: oai:DiVA.org:uu-236098DiVA: diva2:763385
Available from: 2014-11-14 Created: 2014-11-12 Last updated: 2017-12-05Bibliographically approved

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