| 染色体微阵列产前诊断8q13.3微缺失一例 |
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| 引用本文： | 饶慧华,刘艳秋,肖菊花,邹永毅,袁慧珍.染色体微阵列产前诊断8q13.3微缺失一例[J].中华医学遗传学杂志,2021(3):268-270. |
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| 作者姓名： | 饶慧华 刘艳秋 肖菊花 邹永毅 袁慧珍 |
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| 作者单位： | 江西省妇幼保健院产前诊断中心;江西省妇幼保健院超声诊断科 |
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| 摘 要： | 目的应用染色体微阵列分析(chromosome microarray analysis,CMA)技术对1例超声结构异常胎儿进行全基因组拷贝数变异(copy number variations,CNVs)检测,探讨CMA在超声结构异常胎儿产前诊断中的意义。方法应用常规G显带染色体核型分析胎儿及其父母的染色体核型,应用CMA技术分析胎儿及其父母的CNVs。结果G显带核型分析显示胎儿核型与母亲一致,为46,XN,t(8;11)(q21.2;q13)mat,父亲核型正常;父母CMA检测结果均未见异常;胎儿的检测结果为arrGRCh37]8q13.3(71314082-73322915)×1,提示一条8号染色体的8q13.3区域发生2.00 Mb缺失。结论超声结构异常胎儿染色体核型分析检出的平衡易位,需借助CMA等技术进一步确定是否存在微缺失微重复。
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| 关 键 词： | 染色体微阵列 微缺失 平衡易位 |
Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis |
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| Rao Huihua,Liu Yanqiu,Xiao Juhua,Zou Yongyi,Yuan Huizhen.Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis[J].Chinese Journal of Medical Genetics,2021(3):268-270. |
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| Authors: | Rao Huihua Liu Yanqiu Xiao Juhua Zou Yongyi Yuan Huizhen |
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| Institution: | (Prenatal Diagnosis Center,Jiangxi Provincial Maternal and Child Health Care Hospital,Nanchang,Jiangxi 330006,China;Department of Ultrasonography,Jiangxi Provincial Maternal and Child Health Care Hospital,Nanchang,Jiangxi 330006,China) |
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| Abstract: | Objective To assess the value of chromosomal microarray analysis(CMA)for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.Methods The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.Results The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13)translocation which was inherited from its mother.CMA has found no copy number variations(CNVs)in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.Conclusion CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis. |
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| Keywords: | Chromosomal microarray analysis Microdeletion Balanced translocation |
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