DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.

@article{TuckMuller2000DNAHA,
  title={DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.},
  author={Cathy M. Tuck-Muller and Azeet Narayan and Fern Tsien and Dominique F. C. M. Smeets and Jeffrey Sawyer and Emerich S. Fiala and Ock Soon Sohn and M. Ehrlich},
  journal={Cytogenetics and cell genetics},
  year={2000},
  volume={89 1-2},
  pages={121-8}
}
The ICF syndrome (immunodeficiency, centromeric region instability, facial anomalies) is a unique DNA methylation deficiency disease diagnosed by an extraordinary collection of chromosomal anomalies specifically in the vicinity of the centromeres of chromosomes 1 and 16 (Chr1 and Chr16) in mitogen-stimulated lymphocytes. These aberrations include decondensation of centromere-adjacent (qh) heterochromatin, multiradial chromosomes with up to 12 arms, and whole-arm deletions. We demonstrate that… CONTINUE READING