Fig 2. Summarized WG-MPS and Sanger sequencing results in Case 2.

A) Circos plot illustrating partial chr6, chr7, chr8, and chr12 ideograms (outer circle), deletions (red) and duplications (blue) based on the depth of coverage analysis (inner circle) as well as inter-translocation (green lines) and intra-translocation (purple lines) junctions identified by WG-MPS in Case 2. SOX5 disruption by a heterozygous deletion and two inter-translocation breakpoints is highlighted. B) Derivative chromosome reconstruction of the chromothripsis rearrangement. Fragments from chromosomes 6, 7, 8, and 12 are in red, green, blue, and yellow, respectively. Arrows: fragment orientations; black asterisks: translocation junctions sequenced to the base-pair level; red asterisks: translocation junctions amplified but not sequenced. C) Derivative translocation junction sequences (middle line) and matching reference sequences (top and bottom lines) as identified by Sanger sequencing in Case 2. Microhomology is highlighted, and inserted sequences not aligning to either chromosome are in lower-case letters.