What genetic pattern is associated with Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is primarily associated with dysregulation of gene expression at chromosome 11p15.5. This region contains key genes that are involved in growth regulation, and abnormalities here can lead to the overgrowth and various other features characteristic of the syndrome, such as macroglossia, abdominal wall defects, and an increased risk of neoplasms.

The genetic mechanisms often involve changes such as uniparental disomy, imprinting defects, or mutations that affect the regulation of this genomic region. Specifically, the genes within this zone are subject to genomic imprinting, meaning that their expression is determined by whether the gene copy is inherited from the mother or the father. When the regulation of these imprinted genes is disrupted, it can result in the clinical features of Beckwith-Wiedemann syndrome.

Understanding this aspect of 11p15.5 dysregulation is crucial for diagnosis and management of the syndrome, especially concerning the risk of associated tumors, as well as for genetic counseling of affected individuals and their families.