Figure 1.

Deletions and duplications of chromosome 15q25. The 15q25 region based on hg19 is pictured. The minimum deleted (green) and duplicated (red) regions for each patient are shown in solid bars with the maximal deleted and duplicated regions shown in stripes. Deletions reported by Mefford et al. [5], Wagenstaller et al. [6], and Itsara et al. [9] are also represented. Genes responsible for the features associated with 15q25.2 deletions are likely to be contained within a region delineated by dark vertical lines which is based on the maximal deletions of patient described by Wagenstaller et al. (telomeric) and Patient 1 (centromeric). Genes located in this region are represented by black arrows (single copy genes) and grey arrows (genes present in more than one copy) while those outside this region are shown as outlines. Low copy repeats LCR 15q25.2A-D are depicted in orange. Pairs of large, directly oriented stretches of DNA with >98% sequence identity which could mediate non-allelic homologous recombination between LCR clusters are shown at the bottom of the figure as block arrows connected by grey bars.