{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,15]],"date-time":"2025-06-15T17:21:02Z","timestamp":1750008062882},"reference-count":70,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>It was observed that 48.1% of the BWS cases were caused by loss of methylation at differentially methylated region 2 (DMR2-LoM) of the 11p15.5 region, 11.1% by gain of methylation at differentially methylated region 1 (DMR1-GoM) of the 11p15.5 region, 33.3% by paternal uniparental disomy 11 [upd (11)pat] and 7.5% by<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>It is the largest study of molecularly confirmed BWS in the Chinese. Their clinical and epigenetic features are comparable with other ethnic populations.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0094","type":"journal-article","created":{"date-parts":[[2016,12,15]],"date-time":"2016-12-15T10:11:25Z","timestamp":1481796685000},"source":"Crossref","is-referenced-by-count":10,"title":["Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population"],"prefix":"10.1515","volume":"30","author":[{"given":"Ho Ming","family":"Luk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref331","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1038\/ejhg.2009.77","article-title":"Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells","volume":"17","year":"2009","journal-title":"Eur J Hum 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