New mechanism of partial duplication and deletion of chromosome 8: A case report

Figure 1 Non-invasive prenatal testing showed high risk of 3 Mb deletion at the end of chromosome 8p.

Figure 2 Amniocentesis chromosome microarray analysis showed 3. 06Mb deletion in 8p23.3p23.2, and 69.18Mb duplication in 8q21.11q24.3.

Figure 3 Placental high throughput sequencing showed 3. 06Mb deletion in 8p23.3p23.2, and 69.18Mb duplication in 8q21.11q24.3 with 40% mosaicism.

Figure 4 The karyotype of the mother and father. A: The karyotype of the mother was 46,XX; B: The karyotype of the father was 46,XY.