Inherited aplastic anaemia with increased endoreduplications: a new syndrome of Fanconi's anaemia variant?

Two sisters with aplastic anaemia without other congenital anomalies are described. Peripheral blood cytogenetic studies revealed an increase in endoreduplications in the absence of other unstable chromosome anomalies. Increased expression of T-antigen following SV40 virus infection in vitro was demonstrated in both sisters, as well as other normal family members. We feel that these patients represent a variant of Fanconi's anaemia. The importance of performing chromosome studies in idiopathic aplastic anaemia is emphasized.