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

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. This case report underlines the importance of molecular characteriz...

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Bibliographic Details
Published inClinical case reports Vol. 9; no. 2; pp. 769 - 774
Main Authors 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.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.02.2021
John Wiley and Sons Inc
Wiley
Subjects
Case Report
Case Reports
Chromosomes
dextrocardia
duplication
Fetuses
Gene expression
Genomes
Genotype & phenotype
heterotaxy
mate pair
Mutation
Pathogenesis
Pregnancy
SMAD2
Ultrasonic imaging
SMAD2
mate pair
dextrocardia
heterotaxy
duplication
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3608