Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach

Cytogenet Cell Genet. 2001;93(3-4):203-6. doi: 10.1159/000056985.


Analysis of telomere status in patients with Fanconi anaemia (FA) has previously been carried out by measurement of telomere restriction fragment (TRF) length by Southern blotting and densitometry. Results from these studies indicated that FA patients had significant reduction in telomere length compared with age-matched controls. This paper confirms and extends these findings using a direct FISH technique, which showed that 15 out of 16 FA patients had increased loss of telomere signals compared with controls. In 12 out of the 16 patients, decrease in telomere signal intensity could also be detected using a Q-FISH approach.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Fanconi Anemia / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Infant
  • Matched-Pair Analysis
  • Telomere / genetics*