A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement

作者：Soderhall Cilla^*; Lundin Johanna; Lagerstedt Robinson Kristina; Grigelioniene Giedre; Lackgren Goran; Kockum Christina Clementson; Nordenskjold Agneta

来源：European Journal of Pediatric Surgery, 2014, 24(4): 353-359.

DOI：10.1055/s-0033-1349056

• array-CGH
• bladder exstrophy
• MID1
• SHOX
• X chromosome rearrangement

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.

• 出版日期2014-8