一例先天性唇腭裂胎儿的产前诊断
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2020）
Abstract
目的:分析1例先天性唇腭裂胎儿的遗传学病因。方法:应用染色体微阵列分析技术(chromosomal microarray analysis，CMA)检测胎儿及其家系成员染色体拷贝数变异(copy number variation，CNVs)。结果:CMA检测显示胎儿为男性，其染色体Xp11.22区域存在228 kb的DNA片段缺失，染色体9p21.1区域存在721 kb的DNA片段重复，两个CNVs均遗传自亲代。其中染色体Xp11.22区域的CNV为可疑致病性CNV，致病基因为
PHF8，9p21.1区域的CNV为良性CNV。
结论:染色体Xp11.22区域DNA片段缺失可能为胎儿唇腭裂的原因。
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Key words
Cleft lip and palate,Chromosomal microarray analysis,Microdeletion and microduplication,Copy number variation,Prenatal diagnosis
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