Characterization of terminal chromosome anomalies using multisubtelomere FISH.

  title={Characterization of terminal chromosome anomalies using multisubtelomere FISH.},
  author={Angela F. Davies and Toby L Kirby and Zoe Docherty and Caroline M. Ogilvie},
  journal={American journal of medical genetics. Part A},
  volume={120A 4},
Telomeric repeat sequences (TTAGGG) are known to cap the termini of every human chromosome. Proximal to these repeat sequences are chromosome-specific repeat sequences, which in turn are distal to gene-rich regions. Submicroscopic, subtle, or cryptic abnormalities in these regions can now be investigated using commercial probe sets for all of the chromosome-specific subtelomeric regions of the human genome. Using this technology, previously unidentified genomic imbalance has been found in a… CONTINUE READING

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