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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

1 Jun 2000

Abstract excerpt

Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second generation sets of telomere specific clones, together with advances in fluorescence in situ hybridisation (FISH) technology, which have made the prospect of screening for telomeric rearrangements a realistic goal. Initial...

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Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics
Share to Telomeres, Telomerase, and Senescence

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Identifiers

PMID: 10851249
DOI: 10.1136/jmg.37.6.401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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