Mosaic Variegated Aneuploidy Syndrome

Mosaic Variegated Aneuploidy Syndrome

Mosaic variegated aneuploidy syndrome is a rare genetic disorder characterised by mosaicism of various aneuploidies, leading to developmental delays, growth abnormalities, and increased cancer risk. This syndrome is caused by mutations in the BUB1 or BUBR1 genes, affecting cell division. Mosaic variegated aneuploidy syndrome often manifests in infancy with variable severity.