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AAP Grand Rounds 4:46-47 (2000)
© 2000 American Academy of Pediatrics
| The first 20% of the full text of this article appears below. |
Telomeres are the regions at the ends of chromosomes that normally prevent instability and end-to-end fusion of chromosomes. Telomeres are necessary for complete replication of DNA and are involved in both cell longevity and consequent longevity of the individual. Chromosomal rearrangements involving telomeres have been recognized as a significant cause of human genetic disease, especially mental retardation. The development of telomere-specific clones and fluorescence in situ hybridization (FISH) has resulted in valuable diagnostic tools
| Regional Medical Genetics Center, Pediatrics, New York Medical College, Valhalla, NY |
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