Figure 1

Microduplications encompassing NF1 detected in the six subjects in this study for whom oligonucleotide microarray analysis was performed. For all microarray plots, probes are arranged on the x-axis according to physical mapping positions, with the most proximal 17q11.2 probes on the left and the most distal 17q11.2 probes on the right. Values along the y-axis represent log₂ ratios of subject:control signal intensities. Genes in the duplication region are shown underneath the plots as purple boxes. The yellow boxes represent the blocks of low-copy repeats in the region, with colored arrows corresponding to areas of homology among the low-copy repeats. Identical colors correspond to homologous regions. The sizes of the three types of NF1 microdeletions are shown, with nonallelic homologous recombination between the red arrows leading to type 1, brown to type 2, and green to type 3.¹¹