Fig. 1

PHMDS epi-signature. Microarray probes with differing methylation in PHMDS samples were identified by comparing to control samples either all PHMDS samples (a), PHMDS samples with large deletions (b) or PHMDS samples with small deletions (c). Each dot represents one probe and significantly changed probes are in red. No significantly changed were found for the PHDMS small deletion samples. d The 11 probes identified using all PHMDS samples were used for MDS analysis and were not able to clearly distinguish between PHMDS samples and controls. Besides the controls used for probe selection (training), additional controls from our database (testing) were tested. e The 1022 probes identified using the PHMDS large deletion samples were able to clearly distinguish between PHMDS and control samples by MDS. f Hierarchical clustering using the same probes and samples as in e. A distinct cluster mainly representing hypermethylation events, and the other 11 subjects cluster with controls. The top lane in the heatmap indicates the phenotype. The heatmap color scale from blue to red represents the range of the methylation levels (beta values) between 0 and 1