Figure 4.

Examples of Aneuploidy and Subchromosomal CNV Detection

(A) The NGS result of five single trophoblasts for a pregnancy in which the fetus was affected with trisomy 21. The clinical diagnosis was made by karyotype and chromosomal microarray after CVS. These plots were generated by comparison to a normal female reference cell. Cell G730 was judged to be in S phase and not scorable for smaller CNVs, although the trisomy is obvious despite the noise. The first example in (B) shows a detailed view of a trophoblast from a pregnancy in study 2. Chromosome 15 has a 2.5 Mb centromeric deletion, which is a benign, recurrent polymorphism, as frequently seen in our NGS data. The other three plots show the NGS result for a single lymphoblast carrying a 3.6 Mb Smith-Magenis deletion (SMS), a 2.7 Mb DiGeorge deletion (DGS), and a 1.3 Mb Charcot-Marie-Tooth duplication (CMT1A).