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Cytogenetic findings in a parent of a patient with Fanconi's anemia
Author(s) -
Lieber Ernest,
Hsu Lillian,
Spitler Lynn,
Fudenberg H. H.
Publication year - 1972
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.1399-0004.1972.tb01468.x
Subject(s) - fanconi anemia , karyotype , anemia , savior sibling , bone marrow , peripheral blood , biology , chromosomal abnormality , cytogenetics , pathology , genetics , medicine , immunology , chromosome , dna , dna repair , stem cell , hematopoietic stem cell transplantation , gene
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.