Exome & General Genetics
Session # 413
Mosaicism for a cell line with genome-wide uniparental disomy (GWUPD) has been reported in a number of individuals in the literature. The level of mosaicism varies between different tissue types including peripheral blood, skin fibroblasts and various other tissues. UPD is paternal in origin (GWpUPD) in most of the reported cases to date. While paternal UPD on chromosomes 6, 11, 14, 15 and 20 are associated with distinct clinical features, the majority of individuals with GWpUPD have features consistent with Beckwith-Wiedemann syndrome (BWS; UPD11), including macroglossia, hepatomegaly, hemihypertrophy and congenital hyperinsulinemic hypoglycemia. Features of other paternal UPD disorders have also been reported, including bell shaped thorax (UPD14) and developmental delay and seizures (UPD15). Tumors or masses are present in a majority of these individuals and are commonly of adrenal, renal and hepatic origin.