Fig. 3

Detection of segmental unbalanced chromosomal aberrations by NGS from DNA extracted from amniocytes. Top graph shows results for all 24 chromosomes. Latter are represented in the X-axis, and copy number values are shown in the Y-axis. Typical copy number values regarding autosomal chromosomes are expected to be around 2. Single-copy gains of whole or partial segments of chromosomes display the copy number line around 3 (blue line). In comparison, single-copy losses of whole or partial segments of chromosomes have a copy number line around 1 (red line). In this case in particular, a terminal chromosome 3 gain (blue) and a terminal chromosome 5 loss (red) were observed. Lower graphs represent isolated chromosomes 3 and 5 and show a closer look at each chromosome's alterations. Chromosomal breakpoints were established at 3q26.32 and 5p13.3, involving a segmental gain of 22.1 Mb and a segmental loss of 32.0, respectively