Figure 4

FISH analyses for validation of array findings and a model for the generation of ins(18;5)(q21.1;q31.2q35.1). Panel A. Partial karyograms of chromosome pairs 5 (upper row) and 18 (lower row) showing FISH results after hybridization using the respective probes as indicated at the top. The aberrant chromosomes are positioned to the left. The relative positions of the RP11-based BAC probes are indicated in Figure 3. For the probes RP11-117 L6 and RP11-474O19 their relative positions are indicated in Panel D by red and green boxes, respectively. Panel B. Model of the chromosomal rearrangement showing the localization of the breakpoints on the ideograms of chromosomes 5 and 18. Panel C. Schematic representation indicating the regions that are deleted, joined and inserted. Panel D. Schematic representation of genes (light brown boxes) mapping in correspondence to the breakpoint regions and each gene are indicated with respect to it genomic orientation by (+) or (-). Upper panel shows the joined region of 5q31.2 and 5q35.2 and the lower panel shows part of the directly inserted 5q31.2 to 5q35.1 fragment into 18q12.3 and 18q21.1, respectively. The deleted chromosomal fragments are omitted and the genes located in these regions are listed in Figure 3. The axis at the bottom of each panel indicates the chromosomal position of the involved regions. The resolution of the array is limited to the kilobase pair level and the density of the oligo probes differ according to chromosomal regions with the highest density at known cancer genes. Vertical red and green bars indicate the relative genomic position of deleted (red) and not deleted (green) oligonucleotide probes in oaCGH analysis. The asterisk (*) marks three minor genes in the following order MZB1(-), PROB1(-) and SPATA24(-).