Prenatal Characterization of a Novel Inverted Duplication by Mate Pair Sequencing in a Fetus with Dextrocardia

Overview

Journal Clin Case Rep

Date 2021 Feb 18

PMID 33598243

Citations 2

Authors

Cinthya J Zepeda-Mendoza

Anna Essendrup

Stephanie A Smoley

Sarah H Johnson

Nicole L Hoppman

George Vasmatzis

Daniel L Jackson

Hutton M Kearney

Linda B Baughn

Affiliations

Soon will be listed here.

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.

Citing Articles

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

Xue H, Yu A, Chen L, Guo Q, Zhang L, Lin N Sci Rep. 2024; 14(1):16266.

PMID: 39009665 PMC: 11251054. DOI: 10.1038/s41598-024-67164-w.

Prenatal characterization of a novel inverted duplication by mate pair sequencing in a fetus with dextrocardia.

Zepeda-Mendoza C, Essendrup A, Smoley S, Johnson S, Hoppman N, Vasmatzis G Clin Case Rep. 2021; 9(2):769-774.

PMID: 33598243 PMC: 7869371. DOI: 10.1002/ccr3.3608.

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