IJCS | Volume 33, Nº4, July and August 2020

425 Figure 1 - A. Proband 1’ family pedigree. Individuals 1 and 3 presented 3 Mb deletions at 22q11 without congenital heart defects (CHDs). Individual 4 is the proband and presented a 3 Mb deletion at 22q11 with a CHD. Individual 2 had a CHD and died at birth, with no further information. B. Results of multiplex ligation-dependent probe amplification (MLPA) of the proband 1’s family showing a deletion from the LCR22-A to LCR22-D in the child (1), mother (2), and grandmother (3). C. Proband 2’s family pedigree. Individuals 1 and 2 presented 3 Mb deletions at 22q11, but only individual 2 had a CHD. D. The MLPA results of the proband 2’s family showed a deletion from the LCR22-A to LCR22-D in the child (1) and mother (2). E. Proband 3’s family pedigree. Individuals 1 and 2 presented 3 Mb deletions at 22q11, both had CHDs. F. The MLPA results of the family of the proband 3 showed a deletion from the LCR22-A to LCR22-D in the child (1) and mother (2). Santos et al. Congenial heart disease and 22q11 deletion Int J Cardiovasc Sci. 2020; 33(4):423-428 Case Report ears, and learning disability; clinical examination of his father was normal. Proband3wasa2-year-oldboywhowasbornviacesarean section at term. The parents were nonconsanguineous, including a 31-year-old G1P1 mother and a 30-year-old father. His birth weight was 3,120 g (25–50 th percentile), length was 46 cm (3 rd percentile), and OFC was 36 cm (> 50 th percentile). His clinical examination at 25 months of age showed pulmonary atresia with interatrial communication and a short stature. Clinical examination of his mother showed upslanting palpebral fissures, a prominent nose, and speech delay. Clinical examination of the father was normal. Methods Multiplex ligation-dependent probe amplification (MLPA) was performed on DNA from peripheral blood