A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
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
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.
array-CGH, bladder exstrophy, MID1, SHOX, X chromosome rearrangement
IdentifiersURN: urn:nbn:se:uu:diva-236098DOI: 10.1055/s-0033-1349056ISI: 000343012600019OAI: oai:DiVA.org:uu-236098DiVA: diva2:763385