Figure 1

Detection by genomic CGH array of small CNMs and CNVs in different genes. (a) Detection of a hemizygous duplication of 2.2 kb encompassing exon 7 of the DMD gene and a duplication of 1.4 kb in intron 2 (patient 14). (b) Detection of a heterozygous 1.4 kb deletion carrying away exons 25 and 26 of the CFTR gene. The horizontal axis shows the position along the genome (NCBI36; Hg18) and the vertical axis the Cy3:Cy5 log2 ratios. Patient sample was fluorescently labeled using Cy3 and control sample using Cy5. Control was sex matched with patient. The arrows indicate the location of the copy-number change.