Results of aCGH and DNA sequence analyses in patients 2 and 3. (a) aCGH plot obtained using 4x180K microarray (Agilent) in patient 2 shows three duplicated regions in 16q23.3, 16q24.1, and 16q24.2. (b) aCGH plot from Illumina SNP-Array (Infinium® CytoSNP-850K showing duplication on chromosome 16q24.1 in patient 3’s daughter. (c) Duplication junction fragment visualized on 1% agarose gel in the proband (P) and her daughter (D), but absent in the control DNA (C). (d) Chromatogram of the DNA sequence of the junction fragment showing the 3 bp AGA microhomology.