Figure 3

Genome analysis using high resolution 180 K oligo-based array CGH analysis. Panels A-C. aCGH analysis of DNA from bone marrow at the time of referral. Panels D-F. aCGH analysis of DNA from a skin biopsy. Vertical blue lines indicate log₂ ratios +0.24 and +0.60 and red lines indicate log₂ ratios −0.24 and −1.0. The X-axis at the bottom indicates chromosomal position. Panel A. Whole genome view of the bone marrow sample showing a total of four submicroscopic deletions at chromosomes 1 and 2 indicated by arrows. Panel B. To the left a chromosome view of chromosome 1 with deletion at 1p13.2 indicated by an arrow. To the right a zoom view of the deleted region as indicated by red shade together with its maximal chromosomal position. Panel C. To the left the chromosome view of chromosome 2 with deletions at 2p23.3, 2p22.1 and 2q24.3 as indicated by arrows. To the right zoom views of the deleted regions as indicated by red shade together with their respective maximal chromosomal positions. Panel D. Whole genome view of skin biopsy sample lacking the submicroscopic deletions. Panel E. To the left a chromosome view of chromosome 1 and to the right a zoom view of the same region as in Panel B. Panel F. To the left a chromosome view of chromosome 2 and to the right a zoom view of the same regions as in Panel C. The relative positions of the different FISH probes used for validation are indicated in different colors according to the direct fluorescent label used.