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Multiplex ligation dependent probe amplification (MLPA) P311-B1 CHD analysis. MLPA analysis ( A ) positive for deletion of the GATA4 (patients 1 and 2); ( B ) positive for 22q11.2DS (patients 3, 4, 5, and 6), and ( C ) positive for 22q11DupS (patient 7). Reference values: DQ, dosage quotient; Normal, between red and blue lines; 0.80 < DQ < 1.2; heterozygous deletion (red dots) 0.40 < DQ < 0.65; heterozygous duplication (blue dots) 1.30 < DQ < 1.65.
