Figure 2.

Case 1: schematic view of the hypothetical recombination event during maternal meiosis (fragment size not in scale). (a) Recombination in maternal meiosis I occurred between normal and derivative chromosome 3 at a hypothetical crossover point, producing a recombinant chromosome 3 with the duplication (dup) of fragment 3c (consistent with the duplicated chromosomal location Chr3:133466557–143862852 of the proband, as detected by array CGH analysis) and deletion of fragments 3e‐3f‐3g (consistent with the deleted chromosomal location Chr3:169599118–174713426 of the proband, as detected by array CGH analysis). (b) Sanger confirmation of inherited breakpoints junctions, BPJ_3d(+)_3c(+) (chr3:169592488::chr:133464557, number 5) and BPJ_3c(+)_3h(+) (chr3:143880432::chr3:174724062, number 6) on proband (1001‐15) is shown. See also Supporting Information Figure S2 for all the fusion junctions validated on mother's DNA