Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping David Kubicek, Miroslav Hornak, Jakub Horak, Rostislav.

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Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping David Kubicek, Miroslav Hornak, Jakub Horak, Rostislav Navratil, Gabriela Tauwinklova, Jiri Rubes, Katerina Vesela Reproductive BioMedicine Online Volume 38, Issue 3, Pages 330-339 (March 2019) DOI: 10.1016/j.rbmo.2018.11.023 Copyright © 2018 The Author(s) Terms and Conditions

Figure 1 Segmental aneuploidy detection by karyomapping and array comparative genomic hybridization (CGH). Nine embryos from a couple in which the female partner was a carrier of a reciprocal translocation 46,XX,t(11;22)(q23.3q11.2) were analysed by karyomapping and reanalysed by arrayCGH. An unbalanced embryo with a derivative chromosome 11 is shown in the picture (red arrow). (A) Log R ratio from arrayCGH visualized against 46,XX. Log R ratio; (B) and a B-allele frequency chart; (C) of identical embryo analysed by karyomapping. Haploblocks of informative SNPs on chromosomes 11; (D) and 22; (E) show a corresponding loss and gain of 18 Mb on chromosome 11 and 30Mb on chromosome 22 (red box). Maternal chromosomes are visualized in green and yellow and paternal in blue and red colour; and (F) breakpoint analysis of 18 embryos from two couples with a reciprocal translocation. Reproductive BioMedicine Online 2019 38, 330-339DOI: (10.1016/j.rbmo.2018.11.023) Copyright © 2018 The Author(s) Terms and Conditions