Figure 5

CNV inheritance patterns in two family trios. Although most CNVs are clearly inherited (Figure 5A) or displayed an intensity profile in one of the parents that is just below the threshold cutoff (Figure 5B), there are CNVs that appear to be de novo (Figure 5C). This could be due to complicated inheritance of a common CNV present in both parents and the reference, a false positive in the child, or a de novo event in the child. The log intensity ratios are plotted on the Y axis (the dots represent the log intensity ratio of each probe) and the genomic location on the X axis. Red horizontal lines represent CNVs identified in our study and the black horizontal line in Figure 5B represents the same region in the parent that was identified in the child sample as a CNV region. (A) Transmission of a CNV from a father (NA12144) to the child (NA10846). (B) Transmission of a CNV from a father (NA12155) to the child (NA10831). In this case, the intensity profile in this region in the father is just below the significance threshold and was not called as a CNV. However, this region displayed a strong trend as a CNV. (C) A deletion CNV identified in the child (NA10846) is not found in either of the parents (NA12144 and NA12145).