A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
(2014) In European Journal of Pediatric Surgery 24(4). p.353-359- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4800381
- author
- Soderhall, Cilla ; Lundin, Johanna ; Lagerstedt-Robinson, Kristina ; Grigelioniene, Giedre ; Lackgren, Goran ; Clementson Kockum, Christina LU and Nordenskjold, Agneta
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- array-CGH, bladder exstrophy, MID1, SHOX, X chromosome rearrangement
- in
- European Journal of Pediatric Surgery
- volume
- 24
- issue
- 4
- pages
- 353 - 359
- publisher
- Georg Thieme Verlag
- external identifiers
-
- wos:000343012600019
- scopus:84929072472
- pmid:23801353
- ISSN
- 1439-359X
- DOI
- 10.1055/s-0033-1349056
- language
- English
- LU publication?
- yes
- id
- fdaafbe4-7d56-4fab-99cc-93acc6ace2a6 (old id 4800381)
- date added to LUP
- 2016-04-01 09:50:31
- date last changed
- 2022-03-27 01:25:13
@article{fdaafbe4-7d56-4fab-99cc-93acc6ace2a6,
abstract = {{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.}},
author = {{Soderhall, Cilla and Lundin, Johanna and Lagerstedt-Robinson, Kristina and Grigelioniene, Giedre and Lackgren, Goran and Clementson Kockum, Christina and Nordenskjold, Agneta}},
issn = {{1439-359X}},
keywords = {{array-CGH; bladder exstrophy; MID1; SHOX; X chromosome rearrangement}},
language = {{eng}},
number = {{4}},
pages = {{353--359}},
publisher = {{Georg Thieme Verlag}},
series = {{European Journal of Pediatric Surgery}},
title = {{A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement}},
url = {{http://dx.doi.org/10.1055/s-0033-1349056}},
doi = {{10.1055/s-0033-1349056}},
volume = {{24}},
year = {{2014}},
}