A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulm...A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulmonary atresia,large secundum atrial septal defect,and right aortic arch with mirror-image branching,consistent with developmental arrest early in heart looping.To the best of our knowledge,no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology.Hence,this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.展开更多
文摘A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulmonary atresia,large secundum atrial septal defect,and right aortic arch with mirror-image branching,consistent with developmental arrest early in heart looping.To the best of our knowledge,no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology.Hence,this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.
