Schematic of the chromosome 7 region that is deleted in the proband. Panel A: Ideogram of chromosome 7, together with the location and extent of the deletion detected in the proband (7q21.11; hg18 coordinates chr7: 79,573,975–85,833,865; boxed in red). Panel B: Shows the Refseq genes that are localised to the deleted region, those genes that are curated in the Online Mendelian Inheritance in Man (OMIM) database4 and cases reported in the DECIPHER database.13 The images were taken from the UCSC genome browser.3