Fanconi's anemia—chromosome breakage studies in homozygotes and heterozygotes
J Rosendorff, R Bernstein - Cancer genetics and cytogenetics, 1988 - Elsevier
The in vitro enhancement of chromosome breakage by diepoxybutane (DEB) and mitomycin
C (MMC) was studied in 24 Fanconi's anemia (FA) homozygotes and 28 heterozygotes. Both
drugs were shown to enhance chromosome breakage significantly in the homozygotes. In
the great majority of cases, DEB and MMC stressing are reliable techniques for the definitive
cytogenetic diagnosis of FA homozygosity. However, the present study provides no
evidence that individual FA heterozygotes can be differentiated from normal individuals on …
C (MMC) was studied in 24 Fanconi's anemia (FA) homozygotes and 28 heterozygotes. Both
drugs were shown to enhance chromosome breakage significantly in the homozygotes. In
the great majority of cases, DEB and MMC stressing are reliable techniques for the definitive
cytogenetic diagnosis of FA homozygosity. However, the present study provides no
evidence that individual FA heterozygotes can be differentiated from normal individuals on …