Masuno M, Fukushima Y, Sugio Y, Ikeda M, Kuroki Y
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Jinrui Idengaku Zasshi. 1990 Dec;35(4):311-7. doi: 10.1007/BF01883753.
Two unrelated cases of single maxillary central incisor (SM-CI) with 7q terminal deletion of the same breakpoint at 7q36.1 were described. They had mental retardation, microcephaly, hypotelorism, short stature, and normal levels of plasma growth hormone. One case had bilateral caudal ectopic kidneys, double renal pelves, and dilated ureters. The other had bilateral hydroureteronephrosis. The present cases suggest that 7q terminal deletion is one of the causes of SMCI.
描述了两例无关的单颗上颌中切牙（SM-CI）病例，其7号染色体长臂（7q）末端在7q36.1处有相同的断点缺失。他们有智力发育迟缓、小头畸形、眼距过窄、身材矮小，且血浆生长激素水平正常。一例有双侧尾部异位肾、双肾盂和输尿管扩张。另一例有双侧输尿管肾盂积水。目前的病例表明，7q末端缺失是SMCI的病因之一。
