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Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution
Author(s) -
Lisker Ruben,
Gutiérrez Azyadéh Cobo de
Publication year - 1974
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.1399-0004.1974.tb01663.x
Subject(s) - fanconi anemia , bone marrow , bone marrow failure , biology , chromosome , anemia , cytogenetics , pathology , genetics , immunology , haematopoiesis , medicine , stem cell , dna repair , dna , gene
The cytogenetic studies of a girl with Fanconi's anemia revealed that chromosome breakage was clearly increased in the peripheral blood lymphocytes, and that in the bone marrow 60 % of the cells had a structural abnormality characterized by a D group chromosome with a larger than normal long arm. It is thought that an in vivo rearrangement had taken place in the past and, through clonal evolution, had increased its frequency. A complete review of the literature regarding direct cytogenetic studies of the bone marrow in Fanconi's anemia was performed and concluded that structural rearrangements are not unusual in this disease.