Eur J Pediatr Surg 2014; 24(04): 353-359
DOI: 10.1055/s-0033-1349056
Case Gallery
Georg Thieme Verlag KG Stuttgart · New York

A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement

Cilla Soderhall
1  Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
2  Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
,
Johanna Lundin
3  Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
4  Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
,
Kristina Lagerstedt-Robinson
2  Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
4  Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
,
Giedre Grigelioniene
3  Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
4  Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
,
Goran Lackgren
5  Section of Urology, Uppsala Academic Children Hospital, Uppsala, Sweden
,
Christina Clementson Kockum
6  Department of Pediatric Surgery, University Hospital, Lund, Sweden
,
Agneta Nordenskjold
3  Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
7  Department of Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden
› Author Affiliations
Further Information

Publication History

01 November 2012

23 May 2013

Publication Date:
25 June 2013 (eFirst)

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.