Ontology highlight
ABSTRACT:
SUBMITTER: Chen J
PROVIDER: S-EPMC7933649 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Chen Juan J Xu Jian J Yu Yang Y Sun Ling L
Frontiers in genetics 20210219
Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a human overgrowth and cancer susceptibility disorder with a wide clinical spectrum, which cannot be predicted based on genomic variants alone. Most reports on BWS cases focus on childhood patients. Studies on adult BWS patients are scarce. Our study reports a BWS family in which the disorder appears to be caused by deletion of <i>H19</i> and its upstream regulatory elements. Genetic analysis showed a heterozygous microdeletion (~chr11:2009895-20 ...[more]