CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.
Huijuan LiFangxing LiYan XuD.T. RizySushil Adhikari
Huijuan LiFangxing LiYan XuD.T. RizySushil Adhikari
Vishal V. HandeArjun Y. BansodeRahul S. AnkusheD. R. Patil
Huijuan LiFangxing LiSushil AdhikariYan XuD.T. RizyJohn D. Kueck
Daniel ArnoldShammya Shananda SahaSy-Toan NgoCiaran RobertsAnna ScaglioneNathan G. JohnsonSean PeisertDavid Pinney