Figure 1

Mapping of the breakpoint by FISH analysis. (a) Ideograms illustrating the derivative chromosomes involved in the t(2;8)(p16.1;q23.3)dn, and the normal homologous chromosomes. (b) FISH with BAC clone CTD-2314I21, which spans the translocation bkp at 2p16.1, yields hybridisation signals of equal intensity on der(2) and der(8) chromosomes. (c) FISH with BAC clone CTD-2176M10, which spans the translocation bkp at 8q23.3, produces signals of comparable intensity on both derivative chromosomes. (d) FISH with long-range probe (LRP) II, which spans the translocation bkp at 2p16.1, shows a more intense signal on der(2) than on der(8). (e and f) Physical map of the genomic regions containing (e) the 2p16.1 bkp and (f) the 8q23.3 bkp, which includes the BAC clones and LRPs used for the FISH analysis. The probes mapping at chromosome 2 (e) and chromosome 8 (f), which show a hybridization signal on der(2), are indicated in grey, whereas those hybridizing on der(8) in light grey. The probes spanning the bkp regions are indicated by striped black rectangular shapes, the known UCSC genes are shown in black, and the LINC00536 in light grey (human genome assembly GRCh37/hg19).