Figure 5.

Response of lymphocytes from FA patients (n = 18) and healthy subjects (n = 117) to treatment with ICL inducing agents, Diepoxybutane [0.1 µg/mL] and mitomycin C [40 ng/mL]. Gross chromosomal aberrations such as radial figures, translocations, deletions and duplications were commonly observed in FA cells [49] Although the two challenge agents are effective, the use of DEB for diagnosis is preferred, because the results are less variable and the difference between non-FA vs. FA cells is generally clearer.