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A Fetus with 17p13.3 Microdeletion Syndrome Presenting with Congenital Heart Defect and Thymic Hypoplasia [post]

Xiaoxue Zhou, Hairui Sun, Yan Xu, Yihua He
2022 unpublished

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Conotruncal defects (CTD) including tetralogy of Fallot (TOF), double outlet right ventricle (DORV), transposition of great arteries (TGA), and persistent truncus arteriosus (PTA). Conventionally, CTD and thymic hypoplasia occur simultaneously are usually suggestive findings of 22q11.2 deletion syndrome. However, here we describe a fetus with TOF, absence of ductus arteriosus, and thymic hypoplasia diagnosed by echocardiography whose copy number variation sequencing (CNV-Seq) results showed
more » ... the fetus had a 17p13.3 microdeletion instead of 22q11.2 deletion syndrome.
doi:10.22541/au.165160452.23144400/v1 fatcat:zhbeozbjg5hh5pohy7jl72x4x4
Citation

Xiaoxue Zhou, Hairui Sun, Yan Xu, Yihua He. "A Fetus with 17p13.3 Microdeletion Syndrome Presenting with Congenital Heart Defect and Thymic Hypoplasia." (2022)