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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 FISH studies using the telomere specific clones indicate that they will be a valuable diagnostic tool for the investigation of mental retardation, the characterisation of known abnormalities detected by conventional cytogenetic analysis, spontaneous recurrent miscarriages, infertility, haematological malignancies, and preimplantation diagnosis, as well as other fields of clinical interest. In addition, they may help investigate telomere structure and function and can be used in the identification of dosage sensitive genes involved in human genetic disease.

Original publication




Journal article


J Med Genet

Publication Date





401 - 409


Chromosome Aberrations, Chromosome Disorders, Cloning, Molecular, DNA Probes, Genetic Testing, Hematologic Neoplasms, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Preimplantation Diagnosis, Telomere