Fig. 2.

Characterization of r(18) and mapping of the breakpoints. a Schematic of chimeric mate-pair reads on chromosome 18 spanning the putative junction site (JS) in both cases. b Junction site sequences amplified by PCR (left, L1) and breakpoints (arrows) defined by Sanger sequencing (right). Genomic DNA from healthy individual was used as a negative control (left, L2). Two nucleotide variations on junction fragments in case 2 are marked in lower case and asterisked