Figure 2. Mutation detection by aCGH.
(A) Two microduplications in the 5′-region of ITGA9, arr 3p21.3 (37,493,992–37,494,056)×3 and arr 3p21.3 (37,494,150–37,494,255)×3, were detected. The former (64 bp) located over the exon 1-intron 1 boundary and the latter (105 bp) located within the intron 1. (B) The two microduplications were confirmed with a dye swap test. The aCGH was performed with the Agilent customer array, ITGA9 Tiling chip (designed by Welgene Biotechnology Company and Changhua Christian Hospital, Taiwan; Appendix S1).