{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T08:12:33Z","timestamp":1777104753793,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,18]],"date-time":"2014-04-18T00:00:00Z","timestamp":1397779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array\u2010CGH. This is the first case diagnosed prenatally.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deletion in a fetus with facial dysmorphism, spina bifida, and cleft palate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Array\u2010CGH analysis revealed a 5.6 Mb interstitial deletion of the long arm of chromosome 2q36.1q36.3, including the <jats:italic>PAX3<\/jats:italic> and <jats:italic>EPHA4<\/jats:italic> genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present study reinforces the hypothesis that <jats:italic>PAX3<\/jats:italic> haploinsufficiency may be associated with neural tube defects in humans and suggests that the <jats:italic>EPHA4<\/jats:italic> gene might be implicated during palate development. This report also illustrates the added value of array\u2010CGH to detect cryptic chromosomal imbalances in malformed fetuses and to improve genetic counseling prenatally. <jats:italic>Birth Defects Research (Part A) 100:507\u2013511, 2014<\/jats:italic>. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23246","type":"journal-article","created":{"date-parts":[[2014,4,19]],"date-time":"2014-04-19T09:39:42Z","timestamp":1397900382000},"page":"507-511","source":"Crossref","is-referenced-by-count":17,"title":["De novo 2q36.1q36.3 interstitial deletion involving the <i>PAX3<\/i> and <i>EPHA4<\/i> genes in a fetus with spina bifida and cleft palate"],"prefix":"10.1002","volume":"100","author":[{"given":"Carole","family":"Goumy","sequence":"first","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale Universit\u00e9 Clermont1, UFR M\u00e9decine, CHU Clermont\u2010Ferrand, CHU Estaing  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