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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2009 (English)In: American Journal of Medical Genetics, ISSN 0148-7299, E-ISSN 1096-8628, Vol. 149A, no 3, p. 380-386Article in journal (Refereed) Published
Abstract [en]

We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed a carrier frequency of 0.079% (7/8,896) for the inversion. Cloning and detailed analysis of the inversion breakpoint regions show enrichment for interspersed repeat elements and AT-stretches. The centromeric breakpoint coincides with that of a predicted inversion from HapMap data, which suggests that this region is involved in several chromosome 10 variants. No known gene or predicted transcript are disrupted by the inversion which spans approximately 12 Mb. Carriers from four non-related Swedish families have identical inversion breakpoints and haplotype analysis confirmed that the rearrangement is identical by descent. Diagnosis was retrieved in 6 out of the 15 carriers referred for cytogenetic analysis. No consistent phenotype was found to be associated with the inversion. Our study demonstrates that the inv(10)(q11.22q21.1) is a rare and inherited chromosome variant with a broad geographical distribution in Sweden.

Place, publisher, year, edition, pages
Wiley Interscience , 2009. Vol. 149A, no 3, p. 380-386
Keywords [en]
paracentric inversion, chromosome 10q, breakpoint cloning, founder effect
National Category
Medical Genetics
Research subject
Genetics
Identifiers
URN: urn:nbn:se:uu:diva-399807DOI: 10.1002/ajmg.a.32663OAI: oai:DiVA.org:uu-399807DiVA, id: diva2:1379177
Available from: 2019-12-16 Created: 2019-12-16 Last updated: 2020-01-27Bibliographically approved

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Entesarian, MiriamCarlsson, BirgitKlar, JoakimDahl, Niklas
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