Article
A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.
American journal of medical genetics. Part A - 1 Mar 2009
Entesarian Miriam, Carlsson Birgit, Mansouri Mahmoud Reza, Stattin Eva-Lena, Holmberg Eva, Golovleva Irina, Stefansson Hreinn, Klar Joakim, Dahl Niklas
Abstract excerpt
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...
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