摘要
目的应用染色体微阵列芯片分析技术对150例不明原因的精神运动发育迟缓患儿进行拷贝数变异(CNV)检测,探讨其基因遗传病因。方法 收集2015年1月至2019年6月我科精神运动发育迟缓患儿150例,采用Affymetrix CytoScan 750K芯片进行基因组学分析。结果 25例患儿携带与MR/DD相关的CNVs,检出率达16.7%(25/150)。其中10例为已知综合征患者,微缺失2例,大片段缺失1例,临床致病性拷贝数改变7例,临床意义不明5例。结论 染色体微阵列芯片分析技术可以提高对不明原因精神运动发育迟缓患儿的分子病因诊断水平,对深入研究病因机制有重要意义,为患儿预后、康复决策制定、家庭再发风险评估提供指导。
Objective Chromosome microarray chip analysis technology is used to detect copy number variations(CNVs) in 150 children with psychomotor retardation of unknown causes, and to investigate the genetic causes. Methods The Affymetrix Cytoscan 750K chip was used for genomic analysis in 150 children with psychomotor retardation who were treated from January 2015 to June 2019 in our department. Results CNVs related to MR/DD was detected in 25 cases, with a detection rate of 16.7%. Among them, 10 were known syndromes, 2 were microdeletions, 1 was large fragment deletions, 7 were clinically pathogenic copy number changes, and 5 were clinically unknown. Conclusion Chromosome microarray chip analysis technology can increase the level of molecular etiology diagnosis in children with psychomotor retardation of unknown causes, and is of great significance to further study of pathogenetic mechanism, which provides guidance for evaluating prognosis and family recurrence risk as well as making rehabilitation decisions.
作者
谢巧玲
叶燕霞
李艳霞
梁福(钅监)
杨均秀
辛晶
XIE Qiaoling;YE Yanxia;LI Yanxia;LIANG Fujian;YANG Junxiu;XIN Jing(Chancheng District Central Hospital of Foshan City,Foshan 528031,China)
出处
《中国中西医结合儿科学》
2019年第5期387-391,共5页
Chinese Pediatrics of Integrated Traditional and Western Medicine
基金
佛山市卫生与计生局医学科研课题(20190163)
关键词
精神运动发育迟缓
染色体异常
染色体微阵列芯片分析技术
儿童
Psychomotor retardation
Chromosomal abnormalities
Chromosome microarray chip analysis technology
Children
