Molecular cytogenetic analysis of telomere rearrangements

Curr Protoc Hum Genet. 2001 May:Chapter 8:Unit 8.11. doi: 10.1002/0471142905.hg0811s24.


Genomic imbalances involving the telomeric regions of human chromosomes, which contain the highest gene concentration in the genome, are proposed to have severe phenotypic consequences. For this reason, it is important to identify telomere rearrangements and assess their contribution to human pathology. This unit describes the structure and function of human telomeres and outlines several FISH-based methodologies that can be employed to study these unique regions of human chromosomes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Chromosomes, Human / genetics
  • Cytogenetic Analysis / methods*
  • Female
  • Genetics, Medical
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Male
  • Molecular Probe Techniques
  • Telomere / genetics*
  • Translocation, Genetic