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AAP Grand Rounds 4:46-47 (2000)
© 2000 American Academy of Pediatrics

GENETICS

The Use of Subtelomeric Probes in Clinical Diagnosis

Source: Knight SJ, Flint J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 2000;37:401–409.

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 . . . [Full Text of this Article]

Lawrence R. Shapiro, MD, FAAP
Regional Medical Genetics Center, Pediatrics, New York Medical College, Valhalla, NY