{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T22:20:56Z","timestamp":1767046856962,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T00:00:00Z","timestamp":1589587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Chromosome 14q11\u2010q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including <jats:italic>FOXG<\/jats:italic>1(*164874), <jats:italic>NKX2\u20101<\/jats:italic>(*600635), and <jats:italic>PAX9<\/jats:italic>(*167416) and a distal region (RO2), including <jats:italic>NKX2\u20101<\/jats:italic> and <jats:italic>PAX9<\/jats:italic>. We report a 6\u2010year\u2010old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Array\u2010CGH analysis revealed a 14q12q13.2 microdeletion. We compared the phenotype of our patient with previously published cases in order to establish a genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor\/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated on <jats:italic>SNX6<\/jats:italic>(*606098) and <jats:italic>BAZ1A<\/jats:italic>(*605680) as potential candidate genes associated with the corpus callosum abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1289","type":"journal-article","created":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T13:56:16Z","timestamp":1589637376000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1804-0636","authenticated-orcid":false,"given":"Emanuela","family":"Ponzi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Di Venere Hospital ASL BARI Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Di Venere Hospital ASL BARI Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"Emanuele","family":"Agolini","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Matera","sequence":"additional","affiliation":[{"name":"Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari \u201cAldo Moro\u201d Azienda Ospedaliero\u2010Universitaria Consorziale Policlinico di Bari Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Palumbi","sequence":"additional","affiliation":[{"name":"Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari \u201cAldo Moro\u201d Azienda Ospedaliero\u2010Universitaria Consorziale Policlinico di Bari Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia Lucia","family":"Buonadonna","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Di Venere Hospital ASL BARI Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Peschechera","sequence":"additional","affiliation":[{"name":"Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari \u201cAldo Moro\u201d Azienda Ospedaliero\u2010Universitaria Consorziale Policlinico di Bari Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Gabellone","sequence":"additional","affiliation":[{"name":"Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari \u201cAldo Moro\u201d Azienda Ospedaliero\u2010Universitaria Consorziale Policlinico di Bari Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Fatima","family":"Antonucci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Di Venere Hospital ASL BARI Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Margari","sequence":"additional","affiliation":[{"name":"Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari \u201cAldo Moro\u201d Azienda Ospedaliero\u2010Universitaria Consorziale Policlinico di Bari Bari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,16]]},"reference":[{"volume-title":"Manual for the child behavioral checklist\/4\u201018 and 1991 profiles","year":"1991","author":"Achenbach T. 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