TSC2 and tuberous sclerosis: Twelve patients with a congenital heart defect were referred for aCGH and, among these, the test provided results for diagnosis in only two instances, one with a finding of copy number loss of chromosome band 16p13.3, including multiple exons of the TSC2 gene associated with Tuberous sclerosis-2, and the other with copy number loss within chromosome band Xp21.1, which encompasses part of the DMD gene.