Cytogenetic findings in a parent of a patient with Fanconi's anemia

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.