Open AccessPrenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia
Author(s) -
ZepedaMendoza Cinthya J.,
Essendrup Anna,
Smoley Stephanie A.,
Johnson Sarah H.,
Hoppman Nicole L,
Vasmatzis George,
Jackson Daniel L.,
Kearney Hutton M.,
Baughn Linda B.
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3608
Subject(s) - dextrocardia , medicine , prenatal diagnosis , gene duplication , genetic counseling , genetics , computational biology , fetus , pregnancy , gene , biology
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.