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Inherited Aplastic Anaemia with Increased Endoreduplications: a New Syndrome or Fanconi's Anaemia Variant?
Author(s) -
DOSIK H.,
Steier W.,
Lubiniecki A.
Publication year - 1979
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1979.tb03683.x
Subject(s) - aplastic anemia , fanconi anemia , immunology , chromosome , peripheral blood , medicine , chromosome instability , family studies , karyotype , biology , genetics , bone marrow , dna , gene , dna repair
S ummary . 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 SV 40 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.