title: Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines.
abstract: Chromosome rearrangements can lead to aneuploidies of specific chromosome regions and could be present in the entire individual or limited to some tissues (mosaicism) depending on the developmental stage of the embryo when the rearrangement occurs. We report 6 cases with sex chromosome rearrangements identified by conventional cytogenetics and tested by quantitative fluorescent polymerase chain reaction (QF-PCR). QF-PCR has been largely employed for rapid detection of common aneuploidies in pre-natal and post-natal diagnosis and consists in DNA amplification by polymerase chain reaction (PCR) using fluorescent labelled primers and the analysis of chromosome specific small tandem repeats (STR). We tested 5 sex chromosome specific STR markers in multiplex PCR amplifications together with other chromosome specific STR markers as control amplifications. The PCR products were analysed by capillary electrophoresis. The results from QF-PCR analysis were obtained within one day and confirmed our cytogenetic observations. This study shows that QF-PCR analysis can detect sex chromosome imbalance and also suspect mosaicism or chromosome rearrangement.
authors.affiliation: Laboratory of Molecular Genetics and Cytogenetics, G. Gaslini Institute, Largo G. Gaslini 5, 16147 Genoa, Italy. angelacovone@ospedale-gaslini.ge.it
authors.forename: Angela Elvira
authors.initials: AE
authors.lastname: Covone
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Voglino
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
mesh_terms: D000782:Aneuploidy; D002460:Cell Line; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations