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Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia
Author(s) -
Alter Carol L.,
Levine Paul H.,
Bennett John,
Kessler Craig,
Rick Margaret,
Washburn Ronald G.,
Gallin John I.,
Miller Robert W.,
Auerbach Arleen D.
Publication year - 1989
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830320402
Subject(s) - fanconi anemia , medicine , bone marrow failure , acute myelomonocytic leukemia , anemia , leukemia , bone marrow , acute leukemia , immunology , stem cell , genetics , biology , haematopoiesis , gene , dna repair
We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill‐defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non‐lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.