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Abstract
Congenital heart diseases (CHDs) are the most common of all birth defects with a prevalence of 1% in live births.Congenital heart disease may occur as an isolated malformation or may be part of a syndrome. One of the most common syndromes associated with CHDs is the 22q11.2 deletion syndrome. The various conditions associated with del22q11 include DiGeorge syndrome Velocardiofacial syndrome, Conotruncal anomaly face syndrome isolated conotruncal heart defects and Cayler cardiofacial syndrome As a result of their common genetic origin and their phenotypic overlap the syndromes were collectively referred to as ”CATCH 22”(Cardiac abnormality, abnormal facies, Thymic hypoplasia, Cleft palate Hypocalcemia, and del22q11.2 The abnormalities that are known to be associated with del22q11.2 syndrome include cardiovascular malformations, cleft palate micrognathia, low-set ears, hypertelorism, short palpebral fissures blunted nose, short philtrum, renal agenesis, hydronephrosis, mild to moderate learning difficulties, parathyroid hypoplasia, neonatal hypocalcemia, tetany, seizures, thymic hypoplasia, and immune defect The cardiac defects commonly seen in del22q11.2 syndrome are derived from conotruncus which are Tetralogy of Fallot, Ventricular Septal Defect, Atrial Septal Defect, Truncus Arteriosus, and interrupted aortic arch The aim of this study was to detect the prevalence and clinical manifestations of chromosome 22q11.2 microdeletion among children with syndromic congenital heart disease.