Figure 1

Explanation of the 2 triplication patterns. Each triplication pattern shown by Gene View of Agilent Genomic Workbench (Agilent Technologies) is schematically represented. The blue rectangles indicate chromosomal aberrations. The X- and Y- axes indicate the genomic location and a log₂ ratio of the intensity, respectively. The log₂ ratio of the triplicated region is 2-fold higher than that of the duplicated region. (A) The triplication embedded within the duplication region shows duplicated regions (dup) in both ends of the triplication (tri). The 2 examples at 17p13.2 and Xq22.1 include PAFAH1B1 and PLP1, respectively. (B) The triplication not embedded within the duplicated region does not show any duplicated regions on either end of the triplication (tri) Two examples of duplication and triplication at Xp22.31 that include STS are shown. Both aberrations show the same range of the aberration. There are no duplicated regions around the triplicated segment. The black rectangles indicate the locations of the genes.