Figure 1.
Genomic profiles obtained by tiling-resolution array CGH for patients with MR. The arrays contained 32,447 human BAC clones (indicated by small circles representing the log2-transformed and normalized test:reference intensity ratios [“2Log(T/R)”]), ordered from 1pter to Yqter in the two genome profiles and from pter to qter for individual chromosomes, on the basis of physical-mapping positions obtained from the UCSC Genome Browser (May 2004 freeze). A, Examples of de novo alterations, including deletions and duplications, in patients 1, 4, 5, 6, 8, and 9. B, Inherited copy-number variations in patients 117 and 498, including the matching chromosome profiles of one of their parents. The individual chromosome plots show small horizontal lines to indicate the presence of a copy-number alteration (gain shown in green; loss shown in red) detected by HMM analysis. Single-clone changes were ignored.