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. 2015 Jun 10;24(3):373–380. doi: 10.1038/ejhg.2015.123

Figure 2.

Figure 2

Submicroscopic duplications in Xp11.22 in patients with ID. From the top: A red box outlines the region of interest on the X-chromosome in the UCSC genome browser. UCSC genes, including RefSeq, GenBank, CCDS, Rfam, tRNAs and comparative Genomics, are shown below the Affymetrix Cytoscan HD array probe sets. Below are three boxed panels each showing cases of submicroscopic duplications in Xp11.22 clustered depending upon the genes duplicated. The top boxed panel shows cases with TSPYL2 (yellow highlight), KDM5C (green highlight) and IQSEC2 (orange highlight) duplicated, the middle boxed panel shows cases with gains of KDM5C, IQSEC2 and HUWE1, while the bottom panel shows cases with HUWE1 (red highlight) duplicated. Patient 1 to 4 are shown as black bars to differentiate from the patients with duplications reported by Froyen et al20,21, 43 shown as bright blue bars for male patients. Patient identification is given to the left of each bar. Schematic was constructed using the Human Feb. 2009 (hg19) Assembly (UCSC).