Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

<table>Evaluation of MMC-induced chromosomal breakage in stimulated T lymphocyte cultures. Upper row: healthy control; middle row: FA patient; lower row: mosaic FA patient. The healthy control shows breakage only at 300 nM, where the FA patient shows massive breakage (no normal cells present). Mosaicism is evident from the two highest concentrations of MMC, where there are still normal cells present next to cells showing an FA-like breakage rate (&gt;10 breaks/cell). A crude estimate of the proportion of reverted T cells in this mosaic patient would be ~40%.</table>

Anemia

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Figure 2

Figure 2: Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis 