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Defective syndrome 22q11. 2 is a phenotypic disorder that includes DiGeorge syndrome and velocardiocardiofacial syndrome. This study sought to introduce a screening method for the diagnosis of 22q11. 2 deletion syndrome in patients with Conotruncal Congenital Heart Disease (Certuopulmonary Heart Disease) by using qPCR to determine the copy number of the TBX1 gene in a single DNA sample. One patient with truncus arteriosus CCHD was found to have 22q11. 2 deletion syndrome. We recommend this approach as a potential newborn screening technique for 22q11. 2 deletion syndrome in CCHD patients.
Source link: https://doi.org/10.3390/cardiogenetics12030024
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