A Comprehensive and Clinical Review of Distal Deletion Syndrome of Chromosome 5q14.3 |Biomedgrid

Cardozo et al. [1] reported 3 unrelated children, 2 boys and 1 girl, with severe mental retardation, epilepsy, and bilateral periventricular heterotopia limited to the subcutaneous region of the temporal bones and occipital lateral ventricles. Using array CGH, Cardoso et al. [1] identified a deletion of chromosome 5q14.3q21 in 3 unrelated patients with periventricular heterotopia.