拷贝数变异分析对于不明原因智力障碍/发育迟缓患儿的诊断价值
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2021)
Abstract
目的:评估拷贝数变异(copy number variations,CNVs)分析在智力障碍/发育迟缓(intellectual disability/developmental delay, ID/DD)患者遗传学病因诊断中的价值。方法:对2015年1月至2019年12月本院确诊为ID/DD的530例患儿进行核型分析,对不能明确病因的120例核型正常或核型异常患儿应用单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP-array)技术进行CNVs检测。结果:530例ID/DD患儿中检出染色体异常104例,染色体异常检出率19.62%;120例患儿中检出CNVs 44例,检出率36.67%,其中致病性CNVs 20例,检出率16.67%,可能致病性CNVs 6例,临床意义不明CNVs 10例,可能良性CNVs 7例,杂合性丢失(loss of heterozygosity, LOH)1例。结论:SNP-array可提高不明原因ID/DD患者的病因诊断率,为其预后咨询、早期干预及再发风险提供依据。
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Key words
Intellectual disability,Developmental delay,Single nucleotide polymorphism array,Copy number variation
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