Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sarah E SheppardEmilie LalondeN Scott AdzickAnita E BeckTricia BhattiDiva D De LeónKelly A DuffyArupa GangulyEvan HathawayJianling JiRebecca L LinnKatherine LordLinda M RandolphBrian SajordaLisa StatesLaura K ConlinJennifer M KalishPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
SNP microarray is necessary to distinguish GWpUPD cases and the underlying mechanisms. The percentage of GWpUPD cell population within a specific tissue type correlated with the amount of tissue dysplasia. Males with BWS due to GWpUPD are important to distinguish from other molecular etiologies because the mechanism indicates risk for germ cell tumors and autosomal recessive diseases in addition to other BWS features.