Ontology highlight
ABSTRACT:
SUBMITTER: Beygo J
PROVIDER: S-EPMC4989213 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Beygo Jasmin J Joksic Ivana I Strom Tim M TM Lüdecke Hermann-Josef HJ Kolarova Julia J Siebert Reiner R Mikovic Zeljko Z Horsthemke Bernhard B Buiting Karin K
European journal of human genetics : EJHG 20160203 9
Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmission of a chromosomal rearrangement including an inversion and two deletions leads to hypomethylation of the imprint control region 2 (ICR2). As the deletion includes the promoter and 5' part of the ...[more]