临海地区病残儿中遗传性疾病210例鉴定结果分析  

Survey on 210 children with transmissible diseases in disabled children

作　　者：黄兰芳 章雪微 蒋慧敏 

机构地区：[1]浙江省临海市沿江中心卫生院,317022 [2]浙江省临海市妇幼保健院,317300

出　　处：《中国优生与遗传杂志》2014年第8期98-99,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析临海市近3年来医学鉴定的病残儿所患遗传性疾病的种类、发病原因，探讨减少遗传病再发生的防治措施和对策。方法对我市2010～2012年32个街道申请病残儿医学鉴定的遗传病进行分类及病因分析。结果在申请医学鉴定的624例病残儿中有遗传性疾病210例，其中多基因遗传病165例（78．57％）、单基因遗传病36例（17．14％），其中常染色体遗传病32例（15．24％）及X-连锁性遗传病4例（1．90％），染色体病5例（2．38％）。结论病残儿中遗传性疾病比例高，种类复杂，应加强遗传咨询和出生缺陷干预来预防遗传性疾病的发生，减少遗传性病残儿的发生。Objective： To investigate the type and the cause of transmissible diseases in the disabled children from Linhai municipal, in order to improve the prevention and treatment. Methods： Epidemic survey on the enrolled disabled children from 32 of Linhai street District. Results： 210 children with transmissible diseases were found in 624 enrolled disabled children during 2010-2012. Among 210 children, 165 （78.57%） were multigenetic defects, 36 （17.14%） Single genetic defects, including 32 （15.24%） euchromosome abnormality, and 4 （1.90%） x-linked defect, and 5 （2.38%） chromosome abnormality. Conclusion： The transmissible diseases in disabled children are characteristic with high incidence and multitype. It is important to reduce the incidence of transmissible diseases through genetic consultation, perinatal examination and early medical interfering.

关 键 词：病残儿 遗传咨询 遗传性疾病 

分 类 号：R440[医药卫生—诊断学]