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a) Photographs of the proband demonstrating brachydactyly of fingers and toes (a-1 and a-2), palmar transverse crease (a-1), broad and small feet with hyperpigmentation of the soles (a-3); b) DNA copy number (log2 ratio) and allele peak profile across the p arm of chromosome 2; red bar indicates the interstitial deletion (~4.8Mb) at 2p16.3-p21; c) Chromosome 2 animation demonstrating identified contiguous gene deletions in the current and previously reported cases
