Advanced

A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement

Soderhall, Cilla; Lundin, Johanna; Lagerstedt-Robinson, Kristina; Grigelioniene, Giedre; Lackgren, Goran; Clementson Kockum, Christina LU and Nordenskjold, Agneta (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:
author
organization
publishing date
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
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
2014-12-01 07:33:30
date last changed
2017-01-15 03:00:57
@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},
  keyword      = {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},
  volume       = {24},
  year         = {2014},
}