title: Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.
abstract: Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Genetic Diagnosis, oligonucleotide array-CGH has not been used in an extensive way. A comparison between oligonucleotide array-CGH and metaphase-CGH has been performed analysing 15 single fibroblasts from aneuploid cell-lines and 18 single blastomeres from human cleavage-stage embryos. Afterwards, oligonucleotide array-CGH and BAC array-CGH were also compared analysing 16 single blastomeres from human cleavage-stage embryos. All three comprehensive analysis techniques provided broadly similar cytogenetic profiles; however, non-identical profiles appeared when extensive aneuploidies were present in a cell. Both array techniques provided an optimised analysis procedure and a higher resolution than metaphase-CGH. Moreover, oligonucleotide array-CGH was able to define extra segmental imbalances in 14.7% of the blastomeres and it better determined the specific unbalanced chromosome regions due to a higher resolution of the technique (≈ 20 kb). Applicability of oligonucleotide array-CGH for Preimplantation Genetic Diagnosis has been demonstrated in two cases of Robertsonian translocation carriers 45,XY,der(13;14)(q10;q10). Transfer of euploid embryos was performed in both cases and pregnancy was achieved by one of the couples. This is the first time that an oligonucleotide array-CGH approach has been successfully applied to Preimplantation Genetic Diagnosis for balanced chromosome rearrangement carriers.
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Ramos
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: del Rey
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Gemma
authors.initials: G
authors.lastname: Daina
authors.affiliation: Qgenomics Laboratory, 08003, Barcelona, Spain.
authors.forename: Manel
authors.initials: M
authors.lastname: García-Aragonés
authors.affiliation: Qgenomics Laboratory, 08003, Barcelona, Spain.
authors.forename: Lluís
authors.initials: L
authors.lastname: Armengol
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Alba
authors.initials: A
authors.lastname: Fernandez-Encinas
authors.affiliation: Institut Universitari Dexeus, 08028, Barcelona, Spain.
authors.forename: Mònica
authors.initials: M
authors.lastname: Parriego
authors.affiliation: Institut Universitari Dexeus, 08028, Barcelona, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Boada
authors.affiliation: Fundació Puigvert, Hospital de Sant Pau i de la Santa Creu, 08025, Barcelona, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Martinez-Passarell
authors.affiliation: Unitat de Reproducció Humana i Diagnòstic Genètic, Clínica Girona, 17002, Girona, Spain.
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Martorell
authors.affiliation: Genomic Service, Center for Research in Agricultural Genomics (CRAG), 08193, Bellaterra, Spain.
authors.forename: Oriol
authors.initials: O
authors.lastname: Casagran
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Benet
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro
mesh_terms: D001757:Blastomeres / Q000166:cytology / Q000378:metabolism; D002460:Cell Line; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008677:Metaphase / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D059010:Single-Cell Analysis / Q000379:methods*; D014178:Translocation, Genetic