title: Spontaneous chromosome aberrations in Fanconi's anemia patients are located at fragile sites and acute myeloid leukemia breakpoints.
abstract: Spontaneous chromosome aberrations (CA) were analyzed in 3 Fanconi's anemia (FA) patients, 8 family members, and 9 healthy individuals. Peripheral blood lymphocytes obtained from each individual were cultured and cytogenetic analysis was performed on standard and sequential G-banded metaphases. The numbers of abnormal cells and breaks were found to be higher in AF patients compared to the other groups (p < 0.0001). Breakpoint distribution was statistically analyzed considering the formula proposed by Brøgger (1977), showing a non-random pattern among FA patients but not among controls or relatives (p < 0.001). Five chromosomal bands located at 1p36, 1p22, 1q21, 3p14, and 3q21 were non-randomly involved in spontaneous CA in FA patients. These bands were correlated with the chromosomal location of fragile sites, oncogenes, and breakpoints involved in cancer-rearrangements. A significant correlation with the location of fragile sites (p < 0.03) and breakpoints involved in cancer-rearrangements (p < 0.001), particularly with AML chromosome anomalies (p < 0.03) was found, suggesting a possible relationship with the high predisposition to cancer observed in this disease.
authors.affiliation: Sección Citogenética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Capital Federal, República Argentina.
authors.forename: A
authors.initials: A
authors.lastname: Fundia
authors.forename: N
authors.initials: N
authors.lastname: Gorla
authors.forename: I
authors.initials: I
authors.lastname: Larripa
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000235:genetics; D008297:Male