{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:16:09Z","timestamp":1790694969275,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T00:00:00Z","timestamp":1466985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"DGOS (direction g\u00e9n\u00e9rale de l'offre de soins)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (\u223c20 Mb) but only two small deletions (&lt;6 Mb) have been reported. These deletions can cause a variable phenotype depending on the size and location of the deletion. Cognitive disability, facial dysmorphism, and postnatal growth retardation are the most common phenotypic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. The deletion contained 24 coding genes including <jats:italic>STEAP3<\/jats:italic>, <jats:italic>GLI2<\/jats:italic>, and <jats:italic>RNU4ATAC<\/jats:italic> and was inherited from the mild affected mother. A sibling developmental delay and similar dysmorphic facial features was found to have inherited the same deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that <jats:italic>GLI2<\/jats:italic> is a dosage\u2010sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A) 106:793\u2013797, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23535","type":"journal-article","created":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T08:44:22Z","timestamp":1467017062000},"page":"793-797","source":"Crossref","is-referenced-by-count":7,"title":["A novel 2q14.1q14.3 deletion involving <i>GLI2<\/i> and <i>RNU4ATAC<\/i> genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation"],"prefix":"10.1002","volume":"106","author":[{"given":"Carole","family":"Goumy","sequence":"first","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale Univ Clermont1 UFR M\u00e9decine, CHU Clermont\u2010Ferrand CHU Estaing France"},{"name":"EA 4677, ERTICa, Universit\u00e9 d'Auvergne Clermont\u2010Ferrand 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