Fig. 1
Genomic context for the 16p11.2 region. An ideogram of chromosome 16 is shown at the top with the 16p11.2–p12.2 region (chr16:21,800,000–30,200,000) shown below in greater detail. Segmental duplications are represented by orange (>99% sequence similarity), yellow (98–99% similarity), and gray (90–98% similarity) boxes. Red boxes represent the recurrent deletions that are discussed in the text. Large 16p11.2–p12.2 deletions have the same distal breakpoint but variable proximal breakpoints, represented by the thinner red bar. Note that each of the recurrent deletion regions is flanked by segmental duplication blocks, which are thought to facilitate nonallelic homologous recombination.
