Garau A, Lixi M L, Melis P, Costa G, Nurchi A M
Pediatr Med Chir. 1986 Nov-Dec;8(6):847-52.
Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.
对两例普拉德-威利综合征的男性非近亲病例（4岁）进行了临床和细胞学研究。两人均有肥胖、明显性腺功能减退、头围减小、精神运动发育迟缓、肌张力减退、龋齿、手足小、脑电图不成熟等症状。病例1显示7号和15号染色体发生“新生”易位，病例2显示核型正常。根据不同作者的研究，许多普拉德-威利综合征病例显示15号染色体易位至常染色体或X染色体上。这是首次观察到7号染色体参与这种易位。
