Fig. 4

Palindrome birth. a Fiber-FISH image for HG01377 showing a group of multiple new signals distal to P8. Because of the length spanned by these signals, a composite of three fibers is shown, with the correspondences indicated by lines. b Genomic interpretation, showing that the resulting structure can be accounted for by two duplications, which could be parts of a single mutational event. c Loupe file showing increased read depth in distal P8 and a long section of distal flanking sequence, with a junction at the location of the black arrow. d Breakpoint PCR amplifies a fragment in HG01377, but not in HG03006. e The top and bottom sections show two regions of the reference sequence with sections detected in the breakpoint PCR sequence in upper case blue, or upper case orange for a 5-bp microhomology region at the breakpoint. The middle section shows the Sanger sequence trace from the breakpoint PCR product