A Chromosome 10 Variant With a 12 Mb Inversion [inv(10)(q11.22q21.1)] Identical by Descent and Frequent in the Swedish Population

作者：Entesarian Miriam; Carlsson Birgit; Mansouri Mahmoud Reza; Stattin Eva Lena; Holmberg Eva; Golovleva Irina; Stefansson Hreinn; Klar Joakim; Dahl Niklas^*

来源：American Journal of Medical Genetics, Part A, 2009, 149A(3): 380-386.

DOI：10.1002/ajmg.a.32663

• paracentric inversion
• chromosome 10q
• breakpoint cloning
• founder effect

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.

• 出版日期2009-3