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The association of Angelman's syndrome with deletions within 15q11-13.
  1. M Pembrey,
  2. S J Fennell,
  3. J van den Berghe,
  4. M Fitchett,
  5. D Summers,
  6. L Butler,
  7. C Clarke,
  8. M Griffiths,
  9. E Thompson,
  10. M Super
  1. Institute of Child Health, London.

    Abstract

    The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.

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