title: [Fanconi's anemia type Estren-Dameshek. A case report (author's transl)].
abstract: 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.
mesh_terms: D000741:Anemia, Aplastic / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans
vernacular_title: Anemia di Fanconi tipo Estren-Dameshek. Descrizione di un caso.