Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

ABSTRACT: A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the

SUBMITTER: Tosca L 

PROVIDER: S-EPMC2987392 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature