Fig. 2
A UCSC genome browser representation of the 16p11.2 region (chr16:28,000,000–30,500,000) and array CGH data for a subset of patients. Red shading represents the ∼200-kb SH2B1 critical region, and yellow shading represents the more proximal 16p11.2 region that has been associated with multiple developmental phenotypes. Segmental duplications are represented as described earlier. Gene names are in blue. High-density array CGH data are shown for individuals 1–4, 6, and one patient with an atypical deletion. For each individual, deviations of probe log2 ratios from 0 are depicted by gray and black lines. Those exceeding a threshold of 1.5 SD from the mean probe ratio are colored green and red to represent relative gains and losses, respectively. Red rectangles represent the minimally deleted regions of the two sizes of deletions detected in this study; the thin red bar represents variable breakpoint of the larger deletion. The asterisk (*) represents the atypical proximal breakpoint seen in a single case. Frequency of the ∼200-kb (SH2B1 critical region; includes the one atypical deletion) deletions and larger (SH2B1 + distal) deletions in cases and controls (ctrls) are noted in the Table 1 along with P values.
