PMID- 23801353
OWN - NLM
STAT- MEDLINE
DCOM- 20150601
LR  - 20140928
IS  - 1439-359X (Electronic)
IS  - 0939-7248 (Linking)
VI  - 24
IP  - 4
DP  - 2014 Aug
TI  - A case with bladder exstrophy and unbalanced X chromosome rearrangement.
PG  - 353-9
LID - 10.1055/s-0033-1349056 [doi]
AB  - 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.
CI  - Georg Thieme Verlag KG Stuttgart . New York.
FAU - Soderhall, Cilla
AU  - Soderhall C
AD  - Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
FAU - Lundin, Johanna
AU  - Lundin J
AD  - Department of Women's and Children's Health, Center for Molecular Medicine, 
      Karolinska Institutet, Stockholm, Sweden.
FAU - Lagerstedt-Robinson, Kristina
AU  - Lagerstedt-Robinson K
AD  - Department of Molecular Medicine and Surgery, Center for Molecular Medicine, 
      Karolinska Institutet, Stockholm, Sweden.
FAU - Grigelioniene, Giedre
AU  - Grigelioniene G
AD  - Department of Women's and Children's Health, Center for Molecular Medicine, 
      Karolinska Institutet, Stockholm, Sweden.
FAU - Lackgren, Goran
AU  - Lackgren G
AD  - Section of Urology, Uppsala Academic Children Hospital, Uppsala, Sweden.
FAU - Kockum, Christina Clementson
AU  - Kockum CC
AD  - Department of Pediatric Surgery, University Hospital, Lund, Sweden.
FAU - Nordenskjold, Agneta
AU  - Nordenskjold A
AD  - Department of Women's and Children's Health, Center for Molecular Medicine, 
      Karolinska Institutet, Stockholm, Sweden.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130625
PL  - United States
TA  - Eur J Pediatr Surg
JT  - European journal of pediatric surgery : official journal of Austrian Association 
      of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
JID - 9105263
SB  - IM
MH  - Bladder Exstrophy/*genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - *Gene Rearrangement
MH  - Genetic Linkage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pedigree
EDAT- 2013/06/27 06:00
MHDA- 2015/06/02 06:00
CRDT- 2013/06/27 06:00
PHST- 2013/06/27 06:00 [entrez]
PHST- 2013/06/27 06:00 [pubmed]
PHST- 2015/06/02 06:00 [medline]
AID - 10.1055/s-0033-1349056 [doi]
PST - ppublish
SO  - Eur J Pediatr Surg. 2014 Aug;24(4):353-9. doi: 10.1055/s-0033-1349056. Epub 2013 
      Jun 25.