Prader-Willi综合征(PWS)最早在1956年由Prader报道1例自幼肥胖、身材矮小、外生殖器官发育不全及智能发育障碍的病人而得名,1961年Prader和Willi又补充14例相似病例,命名为Prad-er-Willi综合征。1981年本病成为第1例由高分辨染色体检查方法确诊的染色体微缺失综合征[1],它是目 The Prader-Willi Syndrome (PWS) was first named in 1956 by Prader for a report of patients with childhood obesity, short stature, external genital hypoplasia and mental retardation. In 1961 Prader and Willi supplemented 14 similar cases , Named Prad-er-Willi syndrome. In 1981 the disease became the first case of high-resolution chromosomal diagnosis of chromosomal microdeletion syndrome [1], which is the head