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

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
Source :: Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Publication Year :: 2021
Publisher :: Wiley, 2021.
Abstract: 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.

Subjects :: mate pair
SMAD2
duplication
dextrocardia
heterotaxy
Medicine
Medicine (General)
R5-920

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