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

Abstract

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 nonrelated 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.

A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability

“…However, no clear relationship between clinical symptoms and chromosomal abnormality was found [Entesarian et al, 2009]. We believe that probably in our family an association between the presence of the inversion and intellectual disability exists.…”

Inversion variants in the human genome: role in disease and genome architecture

“…In addition to these common variants, numerous rare and unique inversions have been observed in individuals with no apparent phenotype. An illustrative example is inv(10)(q11.22q21.1), a 12 Mb inversion with a carrier frequency of 0.11% in the Swedish population, but with no consistent phenotype [19]. Breakpoint and haplotype analysis indicated that this is a rare variant in the population, originating from a single founder event.…”

Chromosome and Genome Divergence between the Cryptic Eurasian Malaria Vector-Species Anopheles messeae and Anopheles daciae

“…The role of the chromosomal inversions in adaptation and evolution of different Drosophila species has been studied for several decades [3][4][5]. More recently, genome sequencing and mapping revealed functionally important inversions in the human genome [6][7][8][9][10]. Polymorphic inversions have been shown to be associated with epidemiologically important phenotypes in Afrotropical populations of Anopheles [11][12][13][14].…”