{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:00:57Z","timestamp":1782601257918,"version":"3.54.5"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,9,27]],"date-time":"2016-09-27T00:00:00Z","timestamp":1474934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Simpson\u2013Golabi\u2013Behmel (SGBS) syndrome type 1 and type 2 represent rare X\u2010linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Retrospective analysis of four cases with a pre\u2010 or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4\u2009years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the study period, four male fetuses with SGBS were detected. The final diagnosis was made prenatally in three cases. In all cases the second trimester anomaly scan revealed left sided congenital diaphragmatic hernia (CDH) with additional anomalies; three fetuses with SGBS type 1 showed fetal overgrowth. In two of these, whole exome sequencing showed a possible frameshift mutation and a point mutation in the gene <jats:italic>GPC3<\/jats:italic>, respectively. In the third case, multiplex ligation\u2010dependent probe amplification (MLPA) revealed a hemizygous duplication of exon 3\u20137 in the gene <jats:italic>GPC3<\/jats:italic>. In the fourth case, SGBS type 2 was confirmed by array comparative genomic hybridization (CGH) of amniotic fluid cells showing a deletion of the gene <jats:italic>OFD1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We could demonstrate, that in the presence of a CDH, syndromes of the fetus can be increasingly differentiated by detailed sonography followed by a selective and graded molecular diagnostic using microarray techniques and whole exome sequencing. \u00a9 2016 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4920","type":"journal-article","created":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T21:52:45Z","timestamp":1472853165000},"page":"961-965","source":"Crossref","is-referenced-by-count":22,"title":["Whole exome sequencing and array\u2010based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson\u2013Golabi\u2013Behmel syndrome"],"prefix":"10.1002","volume":"36","author":[{"given":"Christina","family":"Kehrer","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Menkhaus","sequence":"additional","affiliation":[{"name":"Center for Assisted Reproduction and Prenatal Diagnosis  Minden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Schwab","sequence":"additional","affiliation":[{"name":"Medical Office for Human Genetics  Wiesbaden 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