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首页> 外文期刊>Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology >Re: Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease. Y. Yan, Q. Wu, L. Zhang, X. Wang, S. Dan, D. Deng, L. Sun, L. Yao, Y. Ma and L. Wang. Ultrasound Obstet Gynecol 2014; 43: 404-412
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Re: Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease. Y. Yan, Q. Wu, L. Zhang, X. Wang, S. Dan, D. Deng, L. Sun, L. Yao, Y. Ma and L. Wang. Ultrasound Obstet Gynecol 2014; 43: 404-412

机译:回复:先天性心脏病胎儿通过基于阵列的比较基因组杂交技术检测亚显微染色体畸变。严燕,吴庆国,张丽,王旭,丹丹,邓丹,孙丽,姚丽,马玉和王丽。 2014年《超声产科妇产科》; 43:404-412

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摘要

In the prenatal diagnosis of chromosomal anomalies, karyotyping is increasingly being replaced with or supplemented by chromosomal microarray analysis (CMA). CMA is used for its ability to screen the whole genome for microscopic anomalies (which are also detected by karyotyping) as well as submicroscopic anomalies, called copy number variants (CNVs). Certain CNVs are related to disease, while others are benign or of unknown clinical significance (VOUS). Knowledge of the additional value of CMA in prenatal diagnosis, considering the chance of finding clinically relevant information as well as that of finding VOUS, is essential in prenatal counseling for invasive prenatal CMA.
机译:在染色体异常的产前诊断中,核型分型正越来越多地被染色体微阵列分析(CMA)替代或补充。 CMA用于筛选整个基因组的微观异常(也可通过核型分析检测)以及称为拷贝数变异体(CNV)的亚微观异常的能力。某些CNV与疾病有关,而另一些则是良性的或临床意义不明(VOUS)。考虑到发现临床相关信息以及发现VOUS的机会,了解CMA在产前诊断中的附加价值的知识对于侵入性产前CMA的产前咨询至关重要。

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