{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T19:39:34Z","timestamp":1788377974482,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T00:00:00Z","timestamp":1645142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely polyhydramnios, macrosomia, macroglossia, omphalocele, placental mesenchymal dysplasia, cardiomegaly, nephromegaly, fetal hydrops, and other rare anomalies. Paternal uniparental disomy in chromosome 11p15 imprinting region accounts for 20% of all BWS, and 8% among those were due to genome\u2010wide paternal uniparental disomy (GWpUPD). GWpUPD is a rare condition and usually results in prenatal lethality. The 31 liveborns reported in the literature demonstrate female predominance in surviving GWpUPD. Here, we reported two prenatal cases which initially presented with features suggestive of BWS, which subsequently were confirmed to have GWpUPD. Further trio SNP genotyping analysis using SNP\u2010based chromosomal microarray revealed androgenetic biparental chimera as the underlying cause. Finally, we highlighted the importance of recognizing GWpUPD as a possible cause in a fetus presenting with BWS phenotype, as it carried a different disease prognosis, tumor predisposition, manifestations of other imprinting disorders, and possibility in unmasking autosomal recessive disorders from the paternal alleles.<\/jats:p>","DOI":"10.1002\/ajmg.a.62665","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T10:44:15Z","timestamp":1645181055000},"page":"1562-1567","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome\u2014An unexpected diagnosis of androgenetic chimera and its clinical implications"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9360-6145","authenticated-orcid":false,"given":"Pui\u2010Tak","family":"Yu","sequence":"first","affiliation":[{"name":"Clinical Genetic Service Department of Health  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Pamela Youde Nethersole Eastern Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau\u2010Lan","family":"Mok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Princess Margaret Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pui\u2010Wah","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin\u2010Wai","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Pamela Youde Nethersole Eastern Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ka\u2010Yin","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Prince of Wales Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5272-0005","authenticated-orcid":false,"given":"Kelvin Y. K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Tsan Yuk Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsz\u2010Kin","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Princess Margaret Hospital  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7044-5916","authenticated-orcid":false,"given":"Brian H. 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