Fig. 2

The mosaic chromosomal aneuploidy and uniparental disomy results of CMA/CNV-seq in fetal amniocytes. A The chip results of case 1 showed that the chr2 increased by about 7%, but the BAF and AD lines showed a higher amount of chr2, indicating co-existed UPD(2) and T2. By calculating, UPD(2) was about 12%. B The chr15 of case 2 increased by about 60%, and the BAF and AD showed several probes signal bands with locus regions of homozygosity (ROH). C The chrX of case 3 was significantly less than the autosome(about 13%). However, the actual levels of BAF and AD disagreed with the X chromosome mosaic, indicating additional UPD(X)(about 20%). In case 4, there was no abnormal CNV in uncultured amniocytes on the chip besides isoUPD of chromosome 20 (D1). However, the results of CNV-seq of the uncultured and cultured amniocytes presented none and 20% T20, respectively (D2)