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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Medicinsk och klinisk genetik.
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2009 (Engelska)Ingår i: American Journal of Medical Genetics, ISSN 0148-7299, E-ISSN 1096-8628, Vol. 149A, nr 3, s. 380-386Artikel i tidskrift (Refereegranskat) 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.

Ort, förlag, år, upplaga, sidor
2009. Vol. 149A, nr 3, s. 380-386
Nyckelord [en]
paracentric inversion;chromosome 10q;breakpoint cloning;founder effect
Identifikatorer
URN: urn:nbn:se:umu:diva-36997DOI: 10.1002/ajmg.a.32663PubMedID: 19213037OAI: oai:DiVA.org:umu-36997DiVA, id: diva2:357008
Tillgänglig från: 2010-10-14 Skapad: 2010-10-14 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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Stattin, Eva-LenaGolovleva, Irina

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