non-mosaic (constitutional) and clonal mosaic anomalies, which were distinguished subsequently using standards based on parent-offspring transmission in family studies and polymorphic CNVs in non-family studies. Three types of clonal mosaics were detected: mixtures of disomic and monosomic cells (deletions), mixtures of disomic and trisomic cells (duplications), and copy-neutral mixtures of biparental and acquired uniparental disomy (aUPD) (see examples in Figure 3 and Supplementary Figure 2). The aUPDs are primarily terminal segments, as expected for an origin through mitotic crossing over (Supplementary Fig 3), while some cases of whole-chromosome aUPD may be due to aneuploidy rescue (Supplementary Fig. 4).
