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

This study emphasizes the significance of CMA in the detection of microdeletions/microduplications and as a screening tool in cases presenting with CHD and extracardiac manifestations. MWS should be suspected in patients presenting with the characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, and congenital heart anomalies, especially those involving the pulmonary arteries or pulmonary valves. It is recommended to include theZEB2 locus in the MLPA microdeletions probes.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research