Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease

Abstract
A 21-year-old Fanconi anemia patient developed refractory anemia. Laboratory studies revealed a transitory increased platelet count and a typical del(5q). Bone marrow karyo-typing showed a -6, + der(6)t(1;6)(q12;p25) rearrangement and, two years later, a mosaic-6,-1-der(6), t(1:6)(q12;p25)/-2, +der 2), t(l;2)(q12;q37) constitution. The chromosome mechanism operating in this patient is discussed.