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A Case with Bladder...
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
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- Soderhall, Cilla (författare)
- Karolinska Institutet,Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
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- Lundin, Johanna (författare)
- Karolinska Institutet,Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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- Lagerstedt-Robinson, Kristina (författare)
- Karolinska Institutet,Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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- Grigelioniene, Giedre (författare)
- Karolinska Institutet,Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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- Läckgren, Göran (författare)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnkirurgi/Christofferson
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- Clementson Kockum, Christina (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Department of Pediatric Surgery, University Hospital, Lund, Sweden
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- Nordenskjold, Agneta (författare)
- Karolinska Institutet,Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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(creator_code:org_t)
- 2013-06-25
- 2014
- Engelska.
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 1439-359X .- 0939-7248. ; 24:4, s. 353-359
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- array-CGH
- bladder exstrophy
- MID1
- SHOX
- X chromosome rearrangement
- array-CGH
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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