A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Entesarian, Miriam (author): Uppsala universitet,Institutionen för genetik och patologi,Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden

Carlsson, Birgit (author): Uppsala universitet,Institutionen för genetik och patologi,Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden

Mansouri, Mahmoud Reza (author): Uppsala universitet,Institutionen för genetik och patologi,Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden

Holmberg, Eva (author): Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden

Stefansson, Hreinn (author): CNS Division, deCODE Genetics, Reykjavik, Iceland

Klar, Joakim, PhD, 1974- (author): Uppsala universitet,Institutionen för immunologi, genetik och patologi,Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden,Institutionen för genetik och patologi

Dahl, Niklas (author): Uppsala universitet,Institutionen för genetik och patologi,Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden

(creator_code:org_t)

Wiley Interscience, 2009
2009
English.
In: American Journal of Medical Genetics. - : Wiley Interscience. - 0148-7299 .- 1096-8628 .- 1552-4825 .- 1552-4833. ; 149A:3, s. 380-386

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Abstract Subject headings

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.

By the author/editor: Entesarian, Miri ...; Carlsson, Birgit; Mansouri, Mahmou ...; Stattin, Eva-Len ...; Holmberg, Eva; Golovleva, Irina; show more...; Stefansson, Hrei ...; Klar, Joakim, Ph ...; Dahl, Niklas; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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