Fig. 2. NGS (A) and Sanger (B) sequencing chromatograms showing heterozygous FANCF variants c.167del (red arrow) and c.2T>C (blue arrow). (C) Chromosomal breakage analysis with mitomycin C showing increased breaks per cell and triradial formations.
Abbreviations: NGS, next-generation sequencing; tri, triradial; ctb, chromatid break; com, complex.

Ann Lab Med 2023;43:204~207 https://doi.org/10.3343/alm.2023.43.2.204