Figure 3.
Two complex sSMCs with features of trisomy rescue. der(X) (RD_P586): On the left side, the copy-number profile and affected genomic regions A–J with triplications shown with striped patterns. For regions H, I, and J, the identified haplotypes’ single-nucleotide variant pattern is displayed below with the sSMC haplotype indicated with *. In the middle, a subway plot shows how BPJs 1–9 connect segments A–J. On the right side, the resolved sSMC structure is given. r(9) (RD_P272): as in A. The two lines ending in circles represent a BPJ between segments B and E (dotted line on the right) that was not identified.
