Fig. 3
From: Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Breakpoint characterization on patient ID1 e ID2: OGM characterized the balanced translocation as: a t(15;18)(q26.1;q12.3) in patient ID1; b t(16;18)(p13.2;q12.3) in patient ID2. The patients’ optical map overlapping the breakpoint (blue segment) is paired with chromosome references (green segments). Matched labels between patient’s and reference maps are reported as grey lines connecting them. The breakpoints have been finely defined by WGS, showing sequence alterations as a result of DNA repair mechanisms: few bases deletions and insertions at breakpoints. The two resulting derivative chromosomes have been consequently reconstructed as shown schematically (c, d)