The Effects of Synthesized Rhenium Acetylsalicylate Compounds on Human Astrocytoma Cell Lines

Abstract

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRN CHRN A7 implicated as a candidate gene. However, the pathogenicity of duplications of A7 is unclear, as they are also found in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRN A7 identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As duplications are the most common CNVs identified by clinical CMA, this study provides CHRN A7 anticipatory guidance for those involved with care of affected individuals. Keywords