Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Bruno Dallapiccola, Giuliana Alimena, Viviana Brinchi, Giancarlo Isacchi, Enrico Gandini

Research output: Contribution to journalArticlepeer-review

Abstract

Chromosome investigations were carried out in 7 patients with Fanconi's anemia, type Estren-Dameshek. The frequency and types of chromosome instability found in cultured lymphocytes were in accord with those detected in individuals with classical Fanconi's anemia. The break-point distribution indicates a significant excess of breaks in chromosomes No. 1, 2, and 7 and a deficit in No. 18 and X and Y chromosomes. There was a clear clustering of breaks at certain locations in chromosomes No. 1, 2, 3, 7, 9, and 14. The location of the breaks with respect to the bands demonstrated an almost exclusive involvement of the lighter bands, regardless of the banding method used. These results suggest that most breaks take place in the interbands between the G and R bands. In all patients, chromosome instability was less frequent in direct bone marrow preparations than in lymphocyte cultures. However, cultured bone marrow cells showed a significant increase of chromosome aberrations. On the whole, the chromosome data derived from this series of patients are in agreement with those obtained in individuals with classical Fanconi's anemia and give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia.

Original languageEnglish
Pages (from-to)349-360
Number of pages12
JournalCancer Genetics and Cytogenetics
Volume2
Issue number4
DOIs
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

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