Abstract
We report an interesting case of a male toddler with global developmental delay, dysmorphic
facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent
corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1
deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar
reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report
lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive.
Keywords
8p23deletion - 8p23 interstitial duplication - cardiac defect -
GATA4 gene