Fig. 1

High-resolution microarray analysis of 16p11.2 rearrangements. Refinement of 16p11.2 microdeletion breakpoints by high-density microarray analysis, for a representative set of cases, is shown. Note that probes with log₂ ratios above or below a threshold of 1.5 standard deviations from the normalized mean log₂ ratio are colored green (duplication) or red (deletion), respectively. Dotted lines represent breakpoint regions (BP). Segmental duplications flanking the 16p11.2 rearrangements are also shown. The orange and blue boxes represent homologous segmental-duplication blocks, 147 kb and 72 kb respectively, participating in the NAHR event for this particular rearrangement