通过配对测序对一名右位心胎儿中的一种新型反向重复序列进行产前特征分析。
Prenatal characterization of a novel inverted duplication by mate pair sequencing in a fetus with dextrocardia.
作者信息
Zepeda-Mendoza Cinthya J, Essendrup Anna, Smoley Stephanie A, Johnson Sarah H, Hoppman Nicole L, Vasmatzis George, Jackson Daniel L, Kearney Hutton M, Baughn Linda B
机构信息
Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA.
Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA.
出版信息
Clin Case Rep. 2020 Dec 10;9(2):769-774. doi: 10.1002/ccr3.3608. eCollection 2021 Feb.
Abstract
This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
摘要
本病例报告强调了在产前环境中对基因组重复和其他结构变异进行分子特征分析的重要性，以指导临床解释、遗传咨询和围产期医疗护理。
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