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Fanconi's anemia: terminal leukemia and “Forme fruste” in one family
Author(s) -
Schroeder T. M.,
Pöhler E.,
Hufnagl H. D.,
StahlMaugé CH.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb00998.x
Subject(s) - fanconi anemia , medicine , anemia , leukemia , pediatrics , immunology , genetics , biology , gene , dna repair
Two adult sisters are described. One with a full clinical, hematological and cytogenetic picture of Fanconi's anemia died of monocytic leukemia. The other woman has several malformations and clinical signs which are found in Fanconi's anemia, but does not show any hematological disorder or sign of bone marrow insufficiency. Cytogenetic findings in this case are comparable to those typical cases with Fanconi's anemia. This case is therefore considered to represent a “forme fruste” of Fanconi's anemia.