Figure 1

Results of the cytogenetic and genomic characterization of the t(2;11) traslocation breakpoints: A) Karyotype of the case described in the present study. The black arrows point on derivative chromosomes 2 and 11. B) FISH results obtained with fosmids and BAC clones delimiting the breakpoint regions on der(2) and der(11). C) Map of chromosome 2 breakpoint region, according to the latest release of the UCSC Genome Browser (March 2006), delimited by BAC clones RP11-1141J14 (left) and RP11-716G6 (right). RefSeq Genes and CpG islands are represented in blue and green, respectively. Intra-chromosomal duplications are reported at the bottom of the figure. Gray, yellow and orange colours refer to the percentage of sequence similarity of the duplication (respectively 90–98%, 98–99%, and >99%). D) FISH results obtained using the Chr2-97-1 Long-PCR product on the bone marrow of the patient. E) Detailed magnified map of the chromosome 2 breakpoint region, showing the location of the Chr2-97-1 probe. F) Map of the breakpoint region on chromosome 11. G) and H) Partial chromatograms of the junctions sequences on both derivative chromosomes 11 (G) and 2 (H). Inserted nucleotides [three (CAT) and sixteen (GGCGGTATGTCCGTAC) at der(11) and der(2), respectively] at the junctions are underlined in purple.