Figure 1.

Physical map of the 8p23.2-pter region (nucleotides 1 to 6,000,000 GRCh37/hg19) adapted from the UCSC Genome Browser [20]: differently colored bars indicate the different genomic regions involved in the microdeletions of: our seven patients (RED bars), patients reported in the literature (GREEN bars), patients described in the DECIPHER database (BLACK bars). All curated and predicted NCBI RefSeq genes included in this region are annotated. Genes included in the candidate region are indicated below with BLUE bars. DARK GREEN bars point to OMIM-disease genes, whereas LIGHT GREY bars indicate genes not associated to any OMIM phenotype [17].