Fig. 4

Breakpoint analysis in Family 15 proband. a OGM data representing the intact chromosome that was inherited from mother. b OGM data representing the parent of origin, Father, and deleted chromosome. Red shaded area represents the deleted region. c, d Homology plots generated using genoPlotR based on PacBio HiFi sequence data depicting the structure of the 3q29 locus: c in the inherited chromosome of the mother and chromosome of the proband. d in the parent of origin chromosome of the father and the deleted chromosome of the proband (deletion breakpoint junction: 74,235,310 to 74,299,419). e Sequence alignment of the proximal (orange font) and distal region (green font) of the parent-of-origin chromosome of the father to the deletion breakpoint sequence of the proband, likely generated by a the putative cross-over event happened during NAHR. PR, proximal; DI, distal; gray shaded area—breakpoint junction; black boxes—sequence variants identified in parent-of-origin and deleted chromosomes