case_images: PMC11141715_01
case_images: The proband's OGM test results. (A) Circos plot, the pink line connecting Chr4 and Chr6 represents the unbalanced translocation between them; (B) The genome map view shows an unbalanced translocation, ogm[GRch38]t(4:6)(q35.2;q25.3); (C) Schematic diagram of the chromosomes of this sample.
case_images: TACG-17-63-g0001.jpg
case_images: PMC11141715_01_TACG-17-63-g0001.jpg
case_images: f0001
case_images: This SV results in a copy number deletion of approximately 2.8 Mb in the 4q35.2q35.3 segment and a copy number duplication of approximately 10.2 Mb in the 6q25.3q27 segment (Table 1). This variant resulted in the formation of a derivative chromosome 4, der(4)(4pter 4q35.2::6q25.3 6qter) (Figure 1).