Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

Figure 1

Chromosomal breakage in stimulated T lymphocytes from patients with FA, RBS, or WABS. A chromosomal breakage test, routinely utilized for the diagnosis of FA, was carried out on various individuals, as indicated (RBS: Roberts syndrome; WABS: Warsaw Breakage syndrome; FA: Fanconi anemia: FA mosaic, FA patient with hematopoietic mosaicism; Con-1 to -3: healthy controls, that is, parents of an affected individual; Con-4 and -5: healthy controls, noncarriers; see Table 1). Whole-blood PHA-stimulated T lymphocyte cultures were exposed to various concentrations of MMC for 72 h and analyzed for chromosomal breakage. Only results for the untreated (blue bars) and the highest concentration of MMC (300 nM, purple bars) are shown. Percentages of cells with the indicated number of chromatid-type break events per cell are shown.