Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the <i>ZEB2</i> gene. Here, we report on an Egyptian patient diagnosed chromosomal microarray (CMA). A 1-year-old male child was referred to CHD clinic, National Research Centre, presenting with features CHD. The human cytogenetics department for cytogenetic analysis screening subtelomere rearrangements microdeletion loci, using MLPA, all revealed normal results. CMA interstitial 2.27-Mb in 2q, entire gene other genes. This study emphasizes significance detection microdeletions/microduplications as tool cases extracardiac manifestations. should be suspected patients characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, anomalies, especially those pulmonary arteries valves. It recommended include locus MLPA probes.