AbstractThis 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.
Prenatal characterization of a novel inverted SMAD2 duplication by mate-pair sequencing in a fetus with dextrocardia
No container title available | October 1, 2020 | Volume: No volume available | Issue: No issue available | Pages: No page available
A fetus harboring a duplication of SMAD2 exons 1-6 presented with dextrocardia and pulmonary hypoplasia. Mate-pair sequencing revealed the duplication to be in inverted tandem orientation to the wild-type SMAD2 allele, disrupting its sequence and decreasing expression. These observations suggest SMAD2 to be responsible for the fetal dextrocardia.