Patil S R, Hanson J W
J Genet Hum. 1980 Dec;28(4):123-9.
A terminal deletion in the short arm of chromosome 8 (:p21 leads to qter) was found in a two years old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.
在一名患有颅面部畸形特征和发育迟缓的两岁女童中发现了8号染色体短臂的末端缺失(从p21到qter)。将临床特征与先前发表的病例进行了比较,提示这是一种可识别的综合征。