{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T03:30:01Z","timestamp":1779247801202,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T00:00:00Z","timestamp":1565308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies. Among these, <jats:italic>SOX3<\/jats:italic> duplication has been reported in some isolated cases. The phenotype associated with this microduplication is variable and includes myelomeningocele (MMC) in both sexes as well as hypopituitarism and cognitive impairment in males. In order to determine the prevalence of this anomaly in fetuses with MMC, a retrospective cohort of fetuses with MMC was analyzed by quantitative PCR (qPCR) targeting <jats:italic>SOX3<\/jats:italic> locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The detection of an <jats:italic>SOX3<\/jats:italic> microduplication by chromosomal microarray analysis (CMA) in two female fetuses with MMC prompted us to analyze retrospectively by qPCR this gene in a cohort of 53 fetuses with MMC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to our two initial cases, one fetus harboring an Xq27.1q28 duplication that encompasses the <jats:italic>SOX3<\/jats:italic> gene was detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our data demonstrate that <jats:italic>SOX3<\/jats:italic> duplication is a genomic imbalance involved in the pathogenesis of NTDs. In addition, our survey highlights the importance of CMA testing in fetuses with NTDs to enable genetic counseling upstream of any considerations of in utero fetal surgery.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5523","type":"journal-article","created":{"date-parts":[[2019,7,12]],"date-time":"2019-07-12T19:40:36Z","timestamp":1562960436000},"page":"1026-1034","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["<i>SOX3<\/i> duplication: A genetic cause to investigate in fetuses with neural tube defects"],"prefix":"10.1002","volume":"39","author":[{"given":"Marguerite","family":"Hureaux","sequence":"first","affiliation":[{"name":"Department of Histology Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital, APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8058-9190","authenticated-orcid":false,"given":"Selima","family":"Ben 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