Pembrey M, Fennell S J, van den Berghe J, Fitchett M, Summers D, Butler L, Clarke C, Griffiths M, Thompson E, Super M
Institute of Child Health, London.
J Med Genet. 1989 Feb;26(2):73-7. doi: 10.1136/jmg.26.2.73.
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%.
安吉尔曼综合征是一种以智力迟钝、癫痫、共济失调和愉悦性格为特征的疾病，其遗传方式存在争议，因为在常染色体隐性遗传中，患病同胞出现的频率低于预期。在发现两名患有15号染色体长臂近端小缺失的无血缘关系患者后，又对另外10名安吉尔曼综合征患者进行了重新评估。其中5名患者的核型明显正常，4名患者在15q11 - 13区域存在缺失，1名患者有涉及同一染色体区域的臂间倒位，即inv(15)(p11q13)。在后一种情况下，健康的母亲也有相同的臂间倒位，这表明该患者的另一条15号染色体上也存在亚显微突变。这些数据将安吉尔曼综合征基因座定位到15q11 - 13，并表明新发的可见缺失（复发风险较低）和常染色体隐性遗传病例共同导致同胞复发风险总体低于25%。
