Ontology highlight
ABSTRACT:
SUBMITTER: Urzua A
PROVIDER: S-EPMC6824882 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Urzua Abraham A Burattini Sofia S Pinochet Constanza C Benavides Felipe F Repetto Gabriela M GM
Journal of pediatric genetics 20190611 4
Beckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and <i>CDKN1C</i> sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. Howe ...[more]