Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland A, Buiting K, Lich C, Mollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
J Med Genet. 1996 Oct;33(10):848-51. doi: 10.1136/jmg.33.10.848.
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.
15q11-q13的从头间质性缺失是普拉德-威利综合征（PWS）和安吉尔曼综合征（AS）的主要病因。在此，我们描述了两名患有典型缺失的非亲缘关系PWS患者，他们的父亲有涉及PWS/AS区域的平衡易位。微卫星数据表明，该缺失是衍生15号染色体与正常15号染色体之间不等交换的结果。我们得出结论，涉及15q11-q13的家族性易位可导致引起PWS或AS的间质性缺失，并且此类家族的产前诊断应包括荧光原位杂交或微卫星研究或两者皆用。
