Fig. 2

Schematic presentation of the chromosome 6p24.3−24.2 region and the identified deletion. The UCSC Genome Browser (http://genome.ucsc.edu) view of the deleted region indicating the positions of genes is included; the deletion identified in the affected family is shown as a rectangular red box; the DNA sequence across the breakpoint for the deleted allele is shown at the bottom of the drawing with regions corresponding to the telomeric and centromeric flanks of the deletion indicated by dashed lines and a 12-nt repeat highlighted in red font