目的:对1例超声显示唇腭裂胎儿进行遗传学检测，分析胎儿唇腭裂的遗传学病因。方法:应用单核苷酸多态性微阵列技术(single nucleotide polymorphism array，SNP array)对引产胎儿皮肤标本进行基因组拷贝数变异检测，并分析变异区域基因致病性。结果:SNP array检测显示唇腭裂胎儿基因组Xq21.31-q22.1(91 063 807-100 293 555)区域存在约9.23 Mb半合子缺失，其表型正常母亲该区域杂合缺失，该变异区域包括13个OMIM基因和1个非编码RNA(non-coding RNA，ncRNA)基因n MIR548M，在人口腔上皮细胞系中抑制n MIR548M编码的miRNA-548m后，唇腭裂相关基因n SUMO1表达上调。n 结论:抑制miRNA-548m导致唇腭裂相关基因n SUMO1表达异常，SNP array检测发现的n MIR548M基因缺失可能是导致胎儿发生唇腭裂的关键遗传学病因。n “,”Objective:To explore the genetic etiology for a fetus with congenital orofacial cleft.Methods:Single nucleotide polymorphism microarray (SNP array) was carried out on skin tissues sampled from the fetus following induced abortion for the detection of copy number variation (CNVs). Pathogenicity of the candidate gene was validated through experiment.Results:SNP array revealed that the fetus has carried a hemizygous 9.23Mb deletion at Xq21.31-q22.1(91 063 807-100 293 555), which was inherited from its mother. The region contained 13 OMIM genes and 1 ncRNA-coding gene n (MIR548M). Inhibiting of the expression of the n MIR548M gene in oral epithelial celllines has resulted in up-regulation of the expression of n SUMO1 gene which was known to involve in the pathogenesis of orofacial cleft.n Conclusion:Dosage insufficiency of the n MIR548M gene may underlie the etiology of orofacial cleft in this fetus.n