ABSTRACT
Determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using Fluorescence in-situ Hybridization [FISH] technique and estimating relation between DiGeorge Syndrome and cardiac conotruncal abnormalities. One-hundred and eighty cases [106 Males, 74 Females] with selective congenital heart disease [conotruncal abnormalities] referred to the hospitals affiliated to Tehran University during 2004-2007 were evaluated by pediatric cardiologists. All patients were assessed for chromosome 22q11.2 microdeletion using FISH technique. Consequently, patients with 22q microdeletion were studied for T cell abnormalities. Median age of the patients at the time of study was 18 months [3d-16y]. The microdeletion of chromosome 22q11.2 was detected in 17 [9.5%] patients with conotruncal abnormalities, including 5 [29.4%] Tetralogy of Fallot plus Supravalvular Pulmonary Stenosis, 4 [23%] Truncus Arteriosus, 5 [29.4%] Pulmonary Artesia with Ventricular Septal Defect, 2 [11.8%] CO AO+Intrrupted Aortic Arch and one case of Valvular Pulmonary Stenosis. Five of uncorrelated cases had crananiofacial dysmorphism. Chromosome 22q11.2 microdeletion FISH study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems [craniofacial dysmorphism and developmental delay] to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families
Subject(s)
Humans , Male , Female , Heart Defects, Congenital/etiology , In Situ Hybridization, Fluorescence/statistics & numerical data , DiGeorge Syndrome/congenital , DiGeorge Syndrome/genetics , /etiology , /genetics , Pulmonary Atresia/etiology , Pulmonary Atresia/genetics , Chromosome Deletion , Pulmonary Subvalvular Stenosis/etiology , Pulmonary Subvalvular Stenosis/genetics , Prenatal Diagnosis/standards , Truncus Arteriosus , Heart Septal Defects, Ventricular/etiology , Heart Septal Defects, Ventricular/geneticsABSTRACT
Los síndromes de DiGeorge y Velocardiofacial son entidadesclínicas incluidas en el síndrome de deleción 22q11, la alteración genómica más frecuente encontrada en humanos, 1 por cada 4000 nacimientos. Por una parte incluye fenotipos extremos que no presentan dificultad en su identificación como también formas intermedias que complican su diagnóstico clínico. Presentamos el caso de un lactante menor de tales características, describimos el proceso mediante el cual llegamos a un diagnóstico presuntivo orientados por las manifestaciones multisistémicas, su manejo, pronóstico y una breve revisión de la literatura.