Schinzel A
Hum Genet. 1979 Jun 19;49(2):167-73. doi: 10.1007/BF00277638.
A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, high-arched and narrow palate, severly receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers; a congenital heart defect; marked muscular hypotonia, motor and growth retardation. She died at 4 months of age. Her karyotype revealed an additional band in 1q. Banding patterns and clinical picture suggest duplication of the segment 1q25 leads to 1q32.
本文描述了一名新生女婴，其具有特征性的面部畸形，包括眼窝深陷、鼻梁宽阔、嘴巴小、腭弓高且狭窄、下颌严重后缩以及耳朵畸形；近端指间关节持续屈曲，手指远端指骨和指甲短小；患有先天性心脏缺陷；明显的肌张力减退、运动和生长发育迟缓。她在4个月大时死亡。其核型显示1号染色体长臂有一条额外的带。带型模式和临床表现提示1q25至1q32节段重复。
