Clinical Study

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

Figure 3

(a) Cohesion defects in lymphocyte cultures from patients with FA, RBS, or WABS. Metaphases prepared from untreated cultures ( ) or treated with 150 nM MMC (+) which had previously been evaluated for chromosomal breakage were reevaluated for the presence of cohesion defects. The percentages of cells containing the indicated number of railroad chromosomes (RR) or total premature centromere separation (PCS) were determined, as summarized in the histograms. (b) Illustrations of the various aberrations scored in the analysis.
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(a)
565268.fig.003b
(b)