Schematic representation of the deletion identified in patient A and of germ line deletions at the 9p21.3 region reported in other studies. A. Array-CGH 400K ratio profile: on the left, the chromosome ideogram, on the right, the log2 ratio of chromosome 9 probes plotted as a function of chromosomal position. Probes with a value zero represent equal fluorescence intensity ratio between sample and reference DNAs; each filled rectangle represents a single probe spotted on the array. Copy number losses shift the ratio to negative log ratio values. In the lower part, the deleted region at 9p21.3 detected in patient A is shown in red and the deleted genes are represented according to UCSC Genome Browser (NCBI build 37, hg19). The deleted region spans between oligomers at 19,934,142 Mb (A_18_P26451569, first deleted) and 22,069,983 Mb (A_16_P18578628, last deleted), flanked by oligomers at 19,927,491 Mb (A_16_P18573439, first present) and 22,086,798 Mb (A_16_P18578677, last present). No CNVs are detected for patient B in the same region. B. Representation of the deletions previously reported in melanoma-NST (ME-NST) and in melanoma (ME) kindreds, in blue and grey lines respectively, in comparison to the deletion detected in patient A. The status of microsatellite markers and of genes comprised in the region as derived from MLPA is shown. The start nucleotide position for microsatellites and genes is indicated (UCSC Genome Browser) [16-18].
Frigerio et al. BMC Medical Genetics 2014 15:59 doi:10.1186/1471-2350-15-59