Figure 2

Analysis of the t(17;20) breakpoint regions on the 17 and 20 chromosomes. (A) Chromosome 17 clone RP11-281D8 yielded FISH signals on the normal chromosome 17 and on the der(17) (arrows).Clones RP11-474K15 and RP11-203M16 produced FISH signals on the normal chromosome 17 and on both derivative chromosomes, der(17) and der(20) (arrows); the stronger signal of RP11-474K15 on the der(17) suggests that the breakpoint occurred on the distal end of this clone. Clone RP11-134J16 yielded FISH signals on the normal chromosome 17 and on the der(20) (arrows). Cross hybridization signals were produced by clones RP11-281D8 (on the short arms of chromosomes 17), RP11-203M16 and RP11-134J16 [on the short arms of chromosomes 20 and der(20)], and RP11-281D8 [on the short arms of chromosomes 17 and der(17)]. The 15 kb segment, overlapped by clones RP11-474K15 and RP11-203M16 and delimited by the sequence between clones RP11-281D8 and RP11-134J16, contains the chromosome 17 breakpoint (chr17: 69,516,104-69,531,685). (B) Chromosome 20 clones RP11-10K23 (red) and RP11-369K4 (green) produced FISH signals on the normal chromosome 20 and on the der(20). Clone RP11-234K24 produced FISH signals on the normal chromosome 20 and on both derivative chromosomes, der(17) and der(20); the stronger signal of clone RP11-234K24 on the der(20) suggests that the breakpoint occurred on the distal end of the clone. The 50 kb segment of clone RP11-234K24, delimited by the sequence of clone RP11-234K24 that does not overlap with clones RP11-10K23 and RP11-369K4, contains the translocation breakpoint (chr20: 34,832,526-34,883,260). (Based on UCSC Genome Bioinformatics, hg19).