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J Med Genet 2003;40:385-398 doi:10.1136/jmg.40.6.385
  • Review article

Telomeres: a diagnosis at the end of the chromosomes

  1. B B A De Vries1,
  2. R Winter2,
  3. A Schinzel3,
  4. C van Ravenswaaij-Arts1
  1. 1Department of Human Genetics, UMC, St Radboud Hospital, Nijmegen, The Netherlands
  2. 2Department of Clinical and Molecular Genetics, ICH, London, UK
  3. 3Institute of Medical Genetics, University of Zurich, Switzerland
  1. Correspondence to:
 Dr B B A de Vries, Department of Human Genetics 417, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands;
 b.devries{at}antrg.umcn.nl

    Abstract

    In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been tested and reported of whom ~ 5% appeared to have a subtelomeric rearrangement. In this review, the clinical aspects of each known (submicroscopic) subtelomeric deletion will be presented and the various methods available for detecting subtelomeric abnormalities will be discussed. Not only will the patients and their families benefit from a good collection and report of the various telomeric abnormalities and their clinical phenotype, but it will also give more insight into the aetiology of mental retardation and malformation syndromes.

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