Figure 1

Visualisation of the 8p22 interstitial deletion. A Genotype and CN state visualisation of SNPs on short arm of chromosome 8 with GenotypeColour. The column corresponding to the genotype profile of the proband is made of many squares symbolizing SNPs; the colour of the squares depends on the SNP genotype, whereas their height is proportional to their CN states. See Barlati et al.[17] for references. In the proband, a partial deletion of chromosome 8, characterized by the absence of heterozygous genotypes and squares of reduced height, is indicated by the white arrow. B FISH analysis on metaphase spread derived from the proband. Signals derived from BAC clones RP11-21H13 and RP11-399 J23 (control probe) are in red and green, respectively. The chromosome 8 with the deletion displayed only the signal for the RP11-399 J23 control probe. C UCSC Genome browser image of the 8p23.1-p21.3 region. The deletion described in our patient (red bar) is displayed together with those reported by[3–6]. The genes annotated in this region are reported at the bottom of the figure.