| 一例先天性唇腭裂胎儿的产前诊断 |
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| 引用本文： | 黄超,宋小艳,张芹,刘敏娟,毛君,向菁菁,刘英华,李红,王挺.一例先天性唇腭裂胎儿的产前诊断[J].中华医学遗传学杂志,2020(4):471-474. |
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| 作者姓名： | 黄超 宋小艳 张芹 刘敏娟 毛君 向菁菁 刘英华 李红 王挺 |
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| 作者单位： | 南京医科大学附属苏州医院/苏州市立医院/中心实验室;南京医科大学附属苏州医院/苏州市立医院/生殖与遗传中心 |
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| 基金项目： | 江苏省妇幼保健协会科研项目(FYX201720);苏州市临床医学中心(SZZX201505);江苏省妇幼保健科研项目(F201603);江苏省医学创新团队(CXTDB2017013);苏州市临床医学专家团队(SZYJTD201708);江苏省妇幼保健重点学科(FXK201748)。 |
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| 摘 要： | 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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| 关 键 词： | 唇腭裂 染色体微阵列分析 微缺失微重复 拷贝数变异 产前诊断 |
Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis |
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| Huang Chao,Song Xiaoyan,Zhang Qin,Liu Minjuan,Mao Jun,Xiang Jingjing,Liu Yinghua,Li Hong,Wang Ting.Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis[J].Chinese Journal of Medical Genetics,2020(4):471-474. |
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| Authors: | Huang Chao Song Xiaoyan Zhang Qin Liu Minjuan Mao Jun Xiang Jingjing Liu Yinghua Li Hong Wang Ting |
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| Affiliation: | (Central Laboratory,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu 215002,China;Reproductive and Genetic Center,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu 215002,China) |
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| Abstract: | Objective To explore the genetic basis for a fetus with cleft lip and palate.Methods Copy number variations(CNVs)in the fetus and his parents were detected with chromosomal microarray analysis(CMA).Results As revealed by the CMA assay,the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1.Both CNVs were inherited from the parents.The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene,whilst the CNV in 9p21.1 was predicted to be benign.Conclusion Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus. |
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| Keywords: | Cleft lip and palate Chromosomal microarray analysis Microdeletion and microduplication Copy number variation Prenatal diagnosis |
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