MICHAEL R. SWIFT, M.D.; KURT HIRSCHHORN, M.D.
The finding of frequent chromosomal breaks and rearrangements in the lymphocytes of patients with Fanconi's anemia (1-5) has reawakened interest in the pathogenesis of this syndrome. Almost all reported cases of Fanconi's anemia have been in children; the diagnosis depends on the presence of multiple congenital malformations in a patient with progressive pancytopenia (6, 7). Leukemias and solid malignant neoplasms have been remarkably frequent in patients with Fanconi's anemia and in members of their families (3, 8).
The children who suffer from the disease are almost always short and relatively dark-skinned from birth, although abnormalities in the peripheral blood may
SWIFT MR, HIRSCHHORN K. Fanconi's Anemia: Inherited Susceptibility to Chromosome Breakage in Various Tissues. Ann Intern Med. ;65:496–503. doi: 10.7326/0003-4819-65-3-496
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Published: Ann Intern Med. 1966;65(3):496-503.
Hematology/Oncology, Red Cell Disorders.
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