Figure 2.

Representative Agilent 8X15K oligoarray comparative genomic hybridisation (CGH) results for heterozygous deletion, heterozygous duplication, and mosaic deletion of the proximal 16p11.2 region. Shown above is the genomic region harbouring the recurrent duplication/deletion. Red and blue bars depict low copy repeats (LCRs) flanking the recurrent rearrangement region. The representative array data below are drawn to the scale of the above region. Log₂ ratio values for all oligos are plotted as a function of their chromosomal position. Probes with Log₂ ratio greater than 0.25 are shown in red points, less than −0.25 are shown as green points, between −0.25 and 0.25 are shown as black points. The horizontal line for each array CGH represents an ~10 kb moving average. The upper two arrays show a moving average of close to −1 and 0.5 in the disease locus, respectively, and therefore interpreted as heterozygous deletion and duplication. The bottom array shows a patient whose array CGH on genomic DNA from blood that reveals a moving average below, but very close to zero, therefore interpreted as mosaic deletion.