Karyotype of the invdupdel(8p) proband iPSC line. (A) Schematic listing commonly observed symptoms in individuals affected by invdupdel(8p). (B) Diagram delineating altered regions in the proband. The deleted region is marked in blue. The region that is inverted and duplicated is marked in red. (C) Karyotype of the invdupdel(8p) proband iPS line. The deleted region is highlighted in blue. The region that is inverted and duplicated is marked in red. (D) Schematic detailing the prolonged passaging of proband cells to induce spontaneous loss of the rearranged copy of Chromosome 8. (E) Generation of copy number TaqMan probes specific to genes contained within the invdupdel(8p) altered regions. CSMD1 is a gene located within the deleted region, and MICU3 is a gene located within the duplicated region. (F) Copy numbers of CSMD1 and MICU3 after passaging proband cells for 12, 22, 33, 40, and 50 passages. Mean ± SEM; data from representative trials are shown (n ≥ 3 total trials). Genomic DNA from the near-diploid MCF10A cell line was used as a control.