Fig. 3.

Mapping of the breakpoint on chromosome 17. Genomic context for the 17q21.31 breakpoint studied by FISH showing the genes (different transcript variants represented) and segmental duplications mapping in the region, and the position of the FISH probes RP11-368D10 (41315374–41484448), RP11-782E01 (41339059–41559177), RP11-86C01 (41493577–41644115) and RP11-259G18 (41559185–41734024). Coordinates are given according to the human reference sequence hg18 (adapted from the UCSC genome browser [20]). RP11-368D10 BAC probe gives red signal on chromosomes 17 and der(17). RP11-782E01 probe gives red signal on chromosomes 17, der(17) and der(1), overlapping the translocation breakpoint. RP11-86C01 probe gives signal on chromosomes 17, der(1) and der(17), overlapping the translocation breakpoint on KANSL1 gene. RP11-259G18 BAC probe gives signal on chromosomes 1 and der(1). RP11-715D19 probe (SpG) has been used as a guide on chromosomes 1 and der(17). The blue box represents the putative region for the KANSL1 gene disruption