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. 2014 Sep 9;9(9):e107028. doi: 10.1371/journal.pone.0107028

Figure 2. Analysis of an OTX1 deletion in subject 1 with BEEC.

Figure 2

A) NimbleGen aCGH revealed a microdeletion of 66 kb at 2p15 that encompasses only OTX1 (blue dots indicate probe position). B) Validation of NimbleGen aCGH results with a custom Agilent aCGH for that microdeletion. Green dots indicate the area of microdeletion. C) OTX1-Taqman-CNV assays validated the microdeletion showing one copy of the gene (red bar) in the subject-1 and 12 other BEEC subjects with normal copy number (blue bars).