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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Nature Genetics volume 9, pages 132–140 (1995)Cite this article

Abstract

A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of individuals, is unexplained in more than half of all cases. We have developed a strategy to screen for the abnormal inheritance of subtelomeric DMA polymorphisms in individuals with mental retardation and have detected three abnormalities in 99 patients with normal routine karyotypes. Pulsed–field gel electrophoresis and reverse chromosome painting showed that one case arose from an interstitial or terminal deletion and two from the de novo inheritance of derivative translocation chromosomes. At least 6% of unexplained mental retardation is accounted for by these relatively small chromosomal abnormalities, which will be an important resource in the characterization of the genetic basis of neurodevelopment.

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Author information

Authors and Affiliations

  1. Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DU, UK

    Jonathan Flint, Andrew O.M. Wilkie & Veronica J. Buckle

  2. Mothercare Unit of Paediatric Genetics and Fetal Medicine, Institute of Child Health, London, WC1N 1EH, UK

    Robin M. Winter

  3. Department of Psychiatry, Developmental Psychiatry Section, University of Cambridge, Cambridge, CB2 2AH, UK

    Anthony J. Holland

  4. Department of Genetics, University of Alberta, Edmonton, T6G 2E9, Canada

    Heather E. McDermid

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  1. Jonathan Flint
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  6. Heather E. McDermid
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Flint, J., Wilkie, A., Buckle, V. et al. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9, 132–140 (1995). https://doi.org/10.1038/ng0295-132

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