Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

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

doi:10.1002/ccr3.3608

Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

Clin Case Rep. 2020 Dec 10;9(2):769-774. doi: 10.1002/ccr3.3608. eCollection 2021 Feb.

Authors

Cinthya J Zepeda-Mendoza¹, Anna Essendrup², Stephanie A Smoley², Sarah H Johnson³, Nicole L Hoppman², George Vasmatzis^{3

4}, Daniel L Jackson⁵, Hutton M Kearney², Linda B Baughn²

Affiliations

¹ Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA.
² Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA.
³ Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic Rochester MN USA.
⁴ Department of Molecular Medicine Mayo Clinic Rochester MN USA.
⁵ Department of Obstetrics, Gynecology and Women's Health University of Missouri Health Columbia MO USA.

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.

Keywords: SMAD2; dextrocardia; duplication; heterotaxy; mate pair.

Publication types

Case Reports