Fig. 2: WGS of chromothripsis-associated chr. 21amp events at high resolution.

a,c,e, Integrated CN and SV plots showing the complex SV in three chr. 21amp cases. The top panel shows intrachromosomal events as arcs between breakpoint loci, and color denotes the type of SV (black, translocation; red, deletion; blue, duplication; green, inversion). Rearrangements are further separated and annotated based on orientation. Interchromosomal events are shown with arrows denoting the likely partner chromosome. The middle panel shows the consensus CN across the chr. 21 ideogram, depicted in the lowest section of each plot to indicate breakpoint location. b,d,f, Circos plots showing global SV burden corresponding to the patients in a, c and e, demonstrating clustering around chr. 21. The outer ring shows the chromosome ideogram. The middle ring shows the B allelic frequency and the inner ring shows the intra- and interchromosomal SVs with the same color scheme as in a, c and e. g,h, Two representative images of metaphase spreads and interphase cells from bone marrow cells from patient 3 (e and f) after FISH with two probes targeting the amplified region on chr. 21q22.2 (green) and a control region on chr. 22q12.2 (red). The chr. 21 amplification event is intrachromosomal. The experiment was performed once and 30 metaphase cells examined. Images were taken at ×1,000 magnification; scale bars, 20 μm. D, deletion; TD, tandem duplication; HH, head-to-head inverted; TT, tail-to-tail inverted.