Fig. 1

Clinical and molecular findings of this patient. a Photographs of this patient at one and 28 years of age. b Methylation indices for imprinting disease-related DMRs, obtained by pyrosequencing. Normally, the H19/IGF2:IG-DMR, MEG3/DLK1:IG-DMR, and MEG3:TSS-DMR are methylated after paternal transmission, and the remaining DMRs are methylated after maternal transmission. The physical positions of examined DMRs are described in Table S3. Gray vertical bars indicate the reference ranges (minimum – maximum) in 50 control subjects. c Array-based genomewide copy-number and BAF analyses using CytoScan HD, and violin plot for the BAFs. d Microsatellite analysis using leukocyte (L) and saliva cells (S). In addition to single major peaks consistent with maternal isodisomy, minor peaks of non-maternal (paternal) origin are detected for three loci on four BAF band regions (written in blue), and those of maternal and non-maternal (paternal) origin are identified for the remaining three loci on six BAF band regions (written in red). Minor peaks of maternal and non-maternal (paternal) origin are indicated with red and blue asterisks, respectively. e Schematic representation of the generation of the parthenogenetic 46,XX cell lineage and the biparental 46,XX cell lineage. For simplicity, the behavior of single homologous chromosomes is shown, and all homologous chromosomes act similarly. The red and orange bars indicate homologous chromosomes in the oocyte, and the blue bar denotes a homologous chromosome in the sperm. M1, meiosis 1; M2, meiosis 2; PB-1, first polar body; PB-2, second polar body; and ER, endoreplication