A clinical, hematological and cytogenetical study has been carried out in a patient with Fanconi's anemia. The absence of phenotypical alterations at clinical and instrumental surveyor suggested a frame in a variant type Estren-Dameshek. The genetical problem between the classical and variant form is not yet established. The cytogenetical analysis in this case, and recent data show the impossibility to distinguish between the two forms, as regard to the frequency and characters of chromosomical instability. On the whole, the chromosomes data derived from recent studies give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia.
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Pediatr Med Chir
August 1982
A clinical, hematological and cytogenetical study has been carried out in a patient with Fanconi's anemia. The absence of phenotypical alterations at clinical and instrumental surveyor suggested a frame in a variant type Estren-Dameshek. The genetical problem between the classical and variant form is not yet established.
View Article and Find Full Text PDFFraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations.
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