Figure 3 Schematic overview of the 2 Mb gene‐empty region between KCNJ2 and SOX9, showing known breakpoints >900 kb upstream of SOX9. Patients 1 and 2 were reported by Hill‐Harfe et al ⁷ and patient 3 by Velagaleti et al.⁸ The patients have breakpoints in the following approximate chromosome positions: patient 1 at 66.7 Mb, and patients 2 and 3 at 66.73 Mb. Patient 4 is the translocation patient presented here with a breakpoint at 66.49 Mb. The green bar represents the breakpoint interval in the three‐generation family with PRS reported by Jamshidi et al.⁹ Velagaleti et al ⁸ suggested a potential regulatory region, SOX9cre1, at 66.52 Mb. BM is the spliced human EST BM678241 and BC is the human mRNA BC039327.