Chromosome abnormalities in bone marrow of Fanconi anemia patients

R Berger, M Le Coniat, G Schaison - Cancer genetics and cytogenetics, 1993 - Elsevier
We report the clonal chromosome abnormalities of five patients with Fanconi anemia (FA). In
one with myelodysplastic syndrome (MDS), an abnormal clone was present in the bone
marrow (BM): 47, XY, trp (1)(q32q44),+ mar. Two had acute myeloblastic leukemia (AML),
one with monosomy 7 and the other with 46, XY, add (1)(p34), del (7)(p13). In the two others
without signs of MDS or AML, pseudodiploidy with 46, XX,− 5,+ 8 and 46, XX,+ 5,− 21 were
present, respectively. The significance of these abnormalities is discussed.