Abstract
Objective: Conotruncal heart defects represent 10%-15% of congenital heart diseases and mostly include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, and interrupted aortic arch. Methods: This study aimed to investigate the prevalence of 22q11.2 deletion (Del22) with fluorescent in situ hybridization analysis among children followed with conotruncal heart defects. In 104 cases with conotruncal heart defects, the 22q11.2 region was screened for deletion through the fluorescent in situ hybridization analysis using a probe specific to this region. Results: The fluorescent in situ hybridization analysis performed in patients with conotruncal heart defects showed that Del22 was present in 3 cases in Group I (70 pts) with isolated cardiopathy (4.3%), 2 cases in Group II (29 pts) with cardiopathy+dysmorphism (6.9%), 2 cases in Group III (2 pts) with cardiopathy+immunodeficiency+dysmorphism (100%), and 1 case in Group IV (3 pts) with cardiopathy+immunodeficiency (33.3%) (P < .05). Eight (7.5%) of 104 patients with conotruncal heart defects were found to have Del22. Conclusions: The results obtained from the present study are compatible with the literature. The clinical manifestation of Del22 is extremely variable. With additional abnormalities such as immunodeficiency and dysmorphic features, Del22 positivity was increasing statistically.
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