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Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
  1. B Horsthemke,
  2. A Maat-Kievit,
  3. E Sleegers,
  4. A van den Ouweland,
  5. K Buiting,
  6. C Lich,
  7. P Mollevanger,
  8. G Beverstock,
  9. G Gillessen-Kaesbach,
  10. G Schwanitz
  1. Institut für Humangenetik, Universitätsklinikum Essen, Germany.

    Abstract

    A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that the deletion is the result of an unequal crossover between the derivative chromosome 15 and the normal chromosome 15. We conclude that familial translocations involving 15q11-q13 can give rise to interstitial deletions causing PWS or AS and that prenatal diagnosis in such families should include fluorescence in situ hybridisation or microsatellite studies or both.

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