摘要
目的对患儿眼虹膜蓝色及先天失聪按遗传咨询程序做规范的家系调查和必要的实验室检查,以明确临床诊断。患儿的蓝色虹膜及上海五官科医院明确诊断的先天感音神经性耳聋,是本病患儿确定为Waardenburg综合征的决定性依据。患儿及其父母外周血淋巴细胞培养染色体G带核型分析未发现染色体数目或结构异常;从父母双亲也未追溯到直系和旁系家族成员中有相同症状患者,显然患儿Waardenburg综合征是由基因突变所致。从优生优育角度出发,作者提议开发相应实验室检测手段以杜绝该类患儿出生。
Objective：To children′s eyes blue and congenital deaf do pedigree investigation of specification and necessary laboratory examinations according to genetic counseling program,to confirm the clinical diagnosis. Blue iris and Shanghai ENT Hospital in diagnosis of congenital sensorineural hearing loss,is a decisive basis for Waardenburg syndrome of this disease in children. Children and their parents of culturing peripheral blood lymphocyte chromosome G banding karyotype analysis showed no abnormal chromosome number or structure;from the parents have not traced back to the same symptoms in patients with immediate and extended family members,apparently in children with Waardenburg syndrome is caused by gene mutation. From the point of view of eugenics angle,author proposed the development of corresponding laboratory detection means to prevent the birth of children with.
出处
《中国优生与遗传杂志》
2015年第3期93-93,104,共2页
Chinese Journal of Birth Health & Heredity
