Figure 1.

17q12 Region

Chromosome 17 schematic showing a close-up of 17q11.2-17q12, including selected genes and segmental duplications in the region, along with the results of four different autism linkage studies^51–54 and one association study on male-only autism families⁵⁵ (black squares [in Stone et al.,⁵⁴ black squares correspond to markers flanking the linkage peak and are connected by a dotted horizontal black line]). The recurrent 17q12 deletion found in our patients is depicted as a horizontal blue line, flanked by segmental duplications (blue shaded rectangles). The 180K cytogenomic array results of one of the patients are shown below.