| 一例Miller-Dieker综合征胎儿的产前诊断及遗传学分析 |
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| 引用本文： | 段富华,孔祥东. 一例Miller-Dieker综合征胎儿的产前诊断及遗传学分析[J]. 中华医学遗传学杂志, 2021, 0(1): 71-73 |
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| 作者姓名： | 段富华 孔祥东 |
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| 作者单位： | 郑州大学第一附属医院妇产科遗传与产前诊断中心 |
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| 基金项目： | 国家重点研发计划(2018YFC1002203)。 |
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| 摘 要： | 目的对1例无脑回畸形胎儿进行遗传学诊断,分析其可能的发生机制,为临床诊断和遗传咨询提供依据。方法应用拷贝数变异分析(copy number variation,CNV)技术检测分析胎儿羊水细胞DNA。结果CNV检测结果显示胎儿染色体17p13.3p13.2区存在5.02 Mb杂合缺失,该缺失片段完全覆盖Miller-Dieker综合征所在区域(chr17:1~2588909)。结论胎儿诊断为Miller-Dieker综合征,17号染色体短臂末端PAFAH1B1基因缺失可能是造成胎儿无脑回畸形的关键基因。
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| 关 键 词： | Miller-Dieker综合征 PAFAH1B1基因 无脑回畸形 |
Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome |
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| Duan Fuhua,Kong Xiangdong. Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome[J]. Chinese journal of medical genetics, 2021, 0(1): 71-73 |
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| Authors: | Duan Fuhua Kong Xiangdong |
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| Affiliation: | (Center of Genetic and Prenatal Diagnosis,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China) |
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| Abstract: | Objective To explore the genetic basis for a fetus with lissencephaly.Methods Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation(CNV)analysis.Results The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2,which encompassed the whole critical region of Miller-Dieker syndrome(MDS)(chr17:1-2588909).Conclusion The fetus was diagnosed with MDS.Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus. |
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| Keywords: | Miller-Dieker syndrome PAFAH1B1gene Lissencephaly |
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