Figure 3

Literature overview of the deleted regions at 2q37, the concomitant CNVs and the phenotypic variations of affected individuals. The horizontal blue bars indicate the deleted regions that were identified in individuals with 2q37 deletion syndrome. The two orange vertical lines denote the locations of the brachydactyly- and obesity-associated genes, HDAC4 and CAPN10, respectively. The information about the chromosomal bands, mapped genes, and bacterial artificial chromosome (BAC) probe loci that was described in the original studies was converted to the genomic scale of the UCSC genome browser assembly GRCh37/hg19 and is shown at the top of the bar plots. The first author and the case identification (left) are annotated as described in the original articles. The presence (+) or absence (-) of brachydactyly and obesity are shown on the right. The clinical phenotypes are highlighted (shaded in pink) when the phenotypes do not match the genotype (i.e., a patient who is negative for brachydactyly or obesity despite carrying a large deletion encompassing the HDAC4 or CAPN10 locus). The brief locus information for the associated CNV is described at the right end. Note that five (P9, 11, 12, 13, and this case) of the seven cases (red dots) with such atypical presentation of the phenotypes have additional CNVs that are external to 2q37. NA, data not available.