Fig. 1.

FISH confirmation of duplication/deletion boundaries. The colored circles on the top of the figure represent FISH probes for NIPA1 (red), SNRPN (green), and TRPM1 (red). These probes were used to determine the duplication/deletion status for all cell lines and to establish if these duplications/deletions included BP1-BP2 and or BP4-BP5 genes. Signals for AS deletion TP-078 (NIPA1 and SNRPN) indicate a deletion only of the BP2-BP3 region on one allele; signals for the control TP-037 line (NIPA1 and SNRPN) indicate two copies of the BP1-BP3 region; and signals for idic(15) TP-058 (TRPM1 and SNRPN) indicate the presence of four copies of BP2-BP3 as well as BP4-BP5