Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk

Abstract

22q11.2 deletion syndrome is a common microdeletion syndrome with a prevalence of 1 in 2000-6000 live births. Clinical features include conotruncal congenital heart defect (CHD), characteristic facial features, neurodevelopmental delay, and immunological abnormalities. Microduplications of 22q11.2 are rare compared to deletions due to ill-defined variable phenotype. A few cases of 22q duplication have been identified in the prenatal period in fetuses with increased nuchal translucency (NT), cardiac anomalies, cleft palate and micrognathia. We report a case of a fetus with increased NT in ultrasound and facial dysmorphism, narrow pulmonary trunk on autopsy evaluation, diagnosed to have microduplication of 22q11.2.