Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. |
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| Authors: | B Horsthemke A Maat-Kievit E Sleegers A van den Ouweland K Buiting C Lich P Mollevanger G Beverstock G Gillessen-Kaesbach G Schwanitz |
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| Affiliation: | Institut für Humangenetik, Universitätsklinikum Essen, Germany. |
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| 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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