Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N
Department of Human Development and Welfare, Faculty of the Science of Living, Osaka City University, Japan.
Am J Med Genet. 1992 Nov 1;44(4):434-6. doi: 10.1002/ajmg.1320440409.
We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome."
我们报告了一名6岁男孩，其核型为46,XY，del(3)(q12q23)，除了有多种其他异常外，还患有双侧睑裂狭小、上睑下垂、内眦赘皮。由于之前报道的4例涉及3q23带的3q间质性缺失病例在临床上相似，我们提出这种由3q23缺失导致的睑裂狭小序列征是一种新的“邻接基因综合征”。
