title: 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 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.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Miriam
authors.initials: M
authors.lastname: Entesarian
authors.forename: Birgit
authors.initials: B
authors.lastname: Carlsson
authors.forename: Mahmoud Reza
authors.initials: MR
authors.lastname: Mansouri
authors.forename: Eva-Lena
authors.initials: EL
authors.lastname: Stattin
authors.forename: Eva
authors.initials: E
authors.lastname: Holmberg
authors.forename: Irina
authors.initials: I
authors.lastname: Golovleva
authors.forename: Hreinn
authors.initials: H
authors.lastname: Stefansson
authors.forename: Joakim
authors.initials: J
authors.lastname: Klar
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000649:Amniocentesis; D016009:Chi-Square Distribution; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D022202:Chromosomes, Artificial, Bacterial; D002879:Chromosomes, Human, Pair 10; D003001:Cloning, Molecular; D020732:Cytogenetic Analysis; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005843:Geography; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D044382:Population Groups; D017422:Sequence Analysis, DNA; D013548:Sweden
chemical_list: D005819:Genetic Markers