Fig. 1

Genomic rearrangements identified in eight subjects with duplications encompassing GPR101. The HD-aCGH log₂ ratio plot for each rearrangement is aligned within the genomic interval of ChrX: 135379766–136479766 (x axis), with the identification of each subject on the y axis. The cluster of red dots shows interrogating oligonucleotide probes that demonstrate increased hybridization intensity, revealing a gain in copy number. The gene content included in the duplicated region is shown underneath the aligned HD-aCGH log₂ ratio plots. The symbols on the right side of the gene names represent the structure of the genes, with vertical lines representing exons. GPR101, a single exon gene, is highlighted in red. The region between the black vertical lines across the log₂ ratio plots and gene track represent the smallest region of overlap encompassing solely GPR101, but not the other three genes (CD40LG, ARHGEF6 and RBMX) in the smallest region of overlap of previously published patients. Red probes, log₂ ratio > 0.25; black probes, −0.25 ≤ log₂ ratio ≤ 0.25; green probes, log₂ ratio < −0.25