【摘 要】
：
目的：采用低覆盖全基因组测序(low coverage whole-genome sequencing,LC-WGS)对一例先天性心脏病(房缺、室缺、右位主动脉弓等)、胸腺缺如、低钙血症和难治性贫血新生儿
【机 构】
：
中南大学基础医学院,长沙,410008中南大学湘雅医院,长沙,410008
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目的：采用低覆盖全基因组测序(low coverage whole-genome sequencing,LC-WGS)对一例先天性心脏病(房缺、室缺、右位主动脉弓等)、胸腺缺如、低钙血症和难治性贫血新生儿进行精确的遗传学分析.方法：在临床疑诊为DiGeorge综合症基础上,对患儿行常规染色体核型分析、荧光原位杂交(Fluorescence in situ hybridization,FISH)检测和LC-WGS进行精确遗传学诊断,并对其父母双方进行验证.结果：患儿核型为46,XX,del (22) (q11)？,FISH检测结果为：46,XX,del(22)(q11).ish del(22)(TUPLE1-,ARSA+),LC-WGS分析显示22 q11.21区段缺失一个拷贝,大小为2.97Mbp,包含主要致病基因TBX1；Xp11.23区段缺失一个拷贝,大小为112Kbp.此两处缺失其父母双方均不存在,为新发突变.结论：采用低深度全基因组测序技术对患儿进行精确诊断,明确患儿病因,其DiGeorge表型与22q 11.21微缺失基因型基本相符,Xp 11.23微缺失为首次报道,为临床诊断、治疗及再生育时产前筛查提供确切依据.
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