Schematic representation of the WBS-CNV1 deletion and duplication variants and characterization of breakpoints. (A) Scheme of the 7q11.23 genomic region with a more-detailed structure of the entire block C and its gene content represented by arrows that define the transcriptional direction (POM121, NSUN5, TRIM50, and FKBP6). The location and sequence differences of the specific PSVs analyzed in this study are shown below. A complete alignment of blocks Cc and Cm is shown in Supplemental Figure 1. (B) Mapping the region of exchange in block C in the individuals with the ∼300-kb deletion or duplication WBS-CNV1. Each row represents the inferred recombinant block Cc–Cm in the indicated individual, with predicted genotypes at each locus depicted by circles: (open circles) Cc-type; (solid circles) Cm-type. A question mark in the circle indicates that the genotype at that specific locus could not be predicted due to polymorphism/gene conversion. The resulting chromosomes with deletion or duplication CNVs are shown.
