Summary of duplication sizes. The position and size of the genomic rearrangements (red (duplication), blue (triplication), and green (deletion) bars), as determined by array CGH are depicted for each subject. An ideogram of chromosome 17p, with a scale indicating the genomic coordinates (version hg18), and the locations of PMP22 and RAI1 genes are also included. Subject 2343 (mosaic marker) is not shown. Cardiac phenotype of each patient with CHD is briefly summarized in
and detailed in the text. Modified with permission from Am J Hum Genet.3 CGH, comparative genomic hybridization; CHD, congenital heart defect.