{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T20:57:13Z","timestamp":1762808233728},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>Deletions of the long arm of chromosome 2 are rare. Few cases of interstitial deletions of the 2q33q35 region have been reported. Individuals with deletions in this region have growth retardation, psychomotor retardation, micrognathia, microcephaly, and apparently low\u2010set ears. We describe a female fetus with a de novo deletion of 2q33.2 to q35 with delayed gyral formation with widespread neuronal heterotopia of the white matter, small cerebellum, esophageal atresia, laryngeal stenosis, micrognathia, and intrauterine growth retardation. With the use of karyotyping and high\u2010resolution array comparative genomic hybridization the boundaries and gene content of the deletion were identified. Our aim was to determine whether a candidate gene for the brain phenotype was present in the deletion. By this means and based on literature we pinpointed the microtubule associated gene <jats:italic>MAP2<\/jats:italic> as a candidate for the brain anomalies. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36202","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T22:17:19Z","timestamp":1384553839000},"page":"194-198","source":"Crossref","is-referenced-by-count":9,"title":["A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis"],"prefix":"10.1002","volume":"164","author":[{"given":"Ellen","family":"van Binsbergen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"Ellis","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service (Kennedy\u2010Galton Centre) North West London Hospitals NHS Trust Harrow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Abdelmalik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Jarvis","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service (Kennedy\u2010Galton Centre) North West London Hospitals NHS Trust Harrow UK"},{"name":"West Midlands Regional Clinical Genetics Service Clinical Genetics Unit, Birmingham Women's Hospital Edgbaston, Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kashmir","family":"Randhawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The 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