García Báez M, Gonzälez Espinosa C, Serna Alonso E, Mota Moraleda D
An Esp Pediatr. 1980 Nov;13(11):1001-6.
Authors report a ten month old girl with multiple malformations: midfacial hypoplasia, hypertelorism, carp mouth, very marked antihelix, poor muscular tone, spindle-shaped fingers with a high frequency of whirles and low levels of serum immunoglobulin A. In leukocyte culture, patient shows a deletion of the long arm of a 18 chromosome.
作者报告了一名10个月大患有多种畸形的女孩:面中部发育不全、眼距过宽、鲤鱼嘴、非常明显的对耳轮、肌张力低下、纺锤形手指且涡纹出现频率高以及血清免疫球蛋白A水平低。在白细胞培养中,患者显示18号染色体长臂缺失。