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Cytogenetic findings in a parent of a patient with Fanconi's anemia
Authors:Ernest  Lieber  Lillian  Hsu  Lynn  Spitler H H Fudenberg
Institution:Department of Medicine, Section of Hematology and Immunology, University of California, San Francisco, California 94122;**Department of Pediatrics, Division of Medical Genetics, Mount Sinai School of Medicine, New York, New York, 10029. Author supported by U.S.P.H.S. Grant (HD-02552).
Abstract:We have studied a patient with clinically established Fanconi type anemia whose peripheral blood leukocyte culture and bone marrow showed a normal male karyotype, with no morphological alterations. The skin fibroblasts in cultures derived from his father, however, revealed a mosaic pattern, 47 , XY F+/46, XY. The findings of a trisomic cell line in a parent of a patient with Fanconi's anemia has been reported only once before.
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