Fig 2

Examples of imbalances detected by the targeted coverage of the custom microarray. The Y-axis displays the genomic position of the oligonucleotides for each chromosome, and the X-axis displays the log₂ ratios of the patient sample versus a normal control sample. The center vertical line represents a log₂ ratio of 0, with the neighboring lines indicating ratio values in increments of 1. Each dot represents a single oligonucleotide probe. A loss is depicted with a red bar, whereas a gain is depicted with a green bar. A, Case 3416 with an unbalanced telomere translocation between the long arm of chromosomes 11 and 12 resulting in monosomy for a 10.8 Mb region on 11q and trisomy for a 15.3 Mb region on 12q; B, Case 2752 with a typical deletion of the PWS/AS critical region on 15q; C, Case 3595 with a 45 kb intragenic deletion of the UBE3A gene within the PWS/AS critical region; D, Case 3745 with a 2.1 Mb duplication involving the 17p11.2 region; E, Case 2911 with a 400 kb duplication of the MECP2 gene on the long arm of the X chromosome.