Figure 2
From: Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Breakpoint junctions and flanking regions identified in case 1–4. (a) Sequence chromatograms are shown with the identified breakpoint spanning region above. Regions of microhomology are shown in black boxes for case 1, 3 and 4. However, it cannot be determined which end of the overlapping region is the real breakpoint. The 59 bp inverted insertion identified in the breakpoint region in case 2 is underlined. (b) Sequences of the identified breakpoint junctions in case 1–4 compared to upstream and downstream references sequence. Regions of microhomology are shown in grey.
