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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)769-774
Number of pages6
JournalClinical Case Reports
Volume9
Issue number2
DOIs
StatePublished - Feb 2021

Keywords

  • SMAD2
  • dextrocardia
  • duplication
  • heterotaxy
  • mate pair

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia'. Together they form a unique fingerprint.

Cite this