Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability

@article{Pezzolo1993PresenceOT,
  title={Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability},
  author={Annalisa Pezzolo and Giorgio Gimelli and Amnon M. Cohen and Antonella Lavaggetto and Cesare P. R. Romano and Giuseppina Fogu and Orsetta Zuffardi},
  journal={Human Genetics},
  year={1993},
  volume={92},
  pages={23-27}
}
In situ hybridization of a telomeric (TTA-GGG) n sequence to metaphases from three cases of ring chromosome, involving respectively chromosomes 4, 16, and 20, showed the presence of the cognate sequences in all three rings. To investigate whether these ring chromosomes originated by telomere-telomere fusion, we determined, by in situ hybridization, whether telomere-associated sequences and/or specific distal sequences were still present in the ring chromosomes. The finding that these sequences… CONTINUE READING

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