Ontology highlight
ABSTRACT:
SUBMITTER: Gurrieri F
PROVIDER: S-EPMC3746256 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Gurrieri Fiorella F Zollino Marcella M Oliva Antonio A Oliva Antonio A Pascali Vincenzo V Orteschi Daniela D Pietrobono Roberta R Camporeale Antonella A Coll Vidal Monica M Partemi Sara S Brugada Ramon R Bellocci Fulvio F Neri Giovanni G
European journal of human genetics : EJHG 20130320 9
We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diagnosis of BWS owing to a maternally inherited deletion of the centromeric imprinting center, or ICR2, an extremely rare genetic mechanism in BWS. The deletion interval (198 kb) also included exons 11-1 ...[more]