TY - JOUR T1 - Genomic imbalances in syndromic congenital heart disease JO - Jornal de Pediatria (English Edition) T2 - AU - Molck,Miriam Coelho AU - Simioni,Milena AU - Paiva Vieira,Társis AU - Sgardioli,Ilária Cristina AU - Paoli Monteiro,Fabíola AU - Souza,Josiane AU - Fett-Conte,Agnes Cristina AU - Félix,Têmis Maria AU - Lopes Monlléo,Isabella AU - Gil-da-Silva-Lopes,Vera Lúcia SN - 00217557 M3 - 10.1016/j.jped.2016.11.007 DO - 10.1016/j.jped.2016.11.007 UR - https://jped.elsevier.es/en-genomic-imbalances-in-syndromic-congenital-articulo-S0021755717302188 AB - ObjectiveTo identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). ResultsClinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. ConclusionThese data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. ER -