{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:00:53Z","timestamp":1782601253189,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T00:00:00Z","timestamp":1473379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004740","name":"Fondazione del Monte","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004740","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array\u2010CGH allowed the identification of <jats:italic>GPC3<\/jats:italic> alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37873","type":"journal-article","created":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T21:18:33Z","timestamp":1473455913000},"page":"3258-3264","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal diagnosis of Simpson\u2013Golabi\u2013Behmel syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Pamela","family":"Magini","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Palombo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Boito","sequence":"additional","affiliation":[{"name":"Obstetric and Gynecology Unit Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Lanzoni","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Mongelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Rizzuti","sequence":"additional","affiliation":[{"name":"Pathology Unit Fondazione IRCCS, C\u00e0 Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Baccarin","sequence":"additional","affiliation":[{"name":"Medical Genetic Laboratory Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Pippucci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit S. 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