{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T13:50:03Z","timestamp":1783432203084,"version":"3.54.6"},"reference-count":50,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T00:00:00Z","timestamp":1470096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Cofinanced by the ISCIII, FEDER funds","award":["FIS11\/2491"],"award-info":[{"award-number":["FIS11\/2491"]}]},{"name":"Cofinanced by the ISCIII, FEDER funds","award":["FIS15\/1481"],"award-info":[{"award-number":["FIS15\/1481"]}]},{"name":"EUCID-COST Action"},{"name":"Sotos Syndrome Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes located at 11p15.5. BWS is correlated with assisted reproductive techniques. BWS in individuals born following assisted reproductive techniques has been found to occur four to nine times higher compared to children with to BWS born after spontaneous conception. Here, we report a series of 187 patients with to BWS born either after assisted reproductive techniques or conceived naturally. Eighty\u2010eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of <jats:italic>KCNQ1OT1<\/jats:italic>:TSS\u2010DMR in comparison with 49% for patients with BWS conceived naturally. None of the patients with BWS born via assisted reproductive techniques had hypermethylation of <jats:italic>H19\/IGF2<\/jats:italic>:IG\u2010DMR, neither CDKN1 C mutations nor patUPD11. We did not find differences in the frequency of multi\u2010locus imprinting disturbances between groups. Patients with BWS born via assisted reproductive techniques had an increased frequency of advanced bone age, congenital heart disease, and decreased frequency of earlobe anomalies but these differences may be explained by the different molecular background compared to those with BWS and spontaneous fertilization. We conclude there is a correlation of the molecular etiology of BWS with the type of conception. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37852","type":"journal-article","created":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T12:30:03Z","timestamp":1470227403000},"page":"2740-2749","source":"Crossref","is-referenced-by-count":32,"title":["Clinical and molecular analyses of Beckwith\u2013Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques"],"prefix":"10.1002","volume":"170","author":[{"given":"Jair","family":"Tenorio","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Romanelli","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Martin\u2010Trujillo","sequence":"additional","affiliation":[{"name":"Imprinting and Cancer Group Cancer Epigenetic and Biology Program (PEBC)  Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garc\u00eda\u2010Moya","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mabel","family":"Segovia","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica ANLIS Dr. Carlos G. 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