{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:03:15Z","timestamp":1762459395337,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,3,27]]},"abstract":"<jats:p>Chromosome 10q23 contains several genes, including <jats:italic>PTEN<\/jats:italic> and <jats:italic>BMPR1A<\/jats:italic>, the mutations or microdeletion of which are associated with aggressive polyposis and malignancies in children. Deletions in this chromosomal region have also been associated with heart anomalies, developmental delay and macrocephaly. Most of the cases reported involve the <jats:italic>PTEN<\/jats:italic> and <jats:italic>BMPR1A<\/jats:italic> genes, usually associated with complex and severe anomalies. We report a case of a boy with a de novo interstitial microdeletion in 10q23.1-q23.2 spanning 6.7\u2005Mb with boundaries from 82\u2005087\u2005077 to 88\u2005847\u2005906, not including <jats:italic>PTEN<\/jats:italic> and <jats:italic>BMPR1A<\/jats:italic>. Clinical features consisted of mildly dysmorphic facies, frontal telangiectasias, poor scholastic performance and hyperactivity. Furthermore, the boy presented toe anomalies, which appeared to be novel features associated with 10q23 deletion. Further observations of 10q23.1-q23.2 deletions are necessary to confirm the clinical features observed in the proband, and to show that deletion or mutations not involving <jats:italic>PTEN<\/jats:italic> and <jats:italic>BMPR1A<\/jats:italic> may not be associated with severe neurological impairment and malformation anomalies.<\/jats:p>","DOI":"10.1136\/bcr-2016-214388","type":"journal-article","created":{"date-parts":[[2016,4,18]],"date-time":"2016-04-18T10:22:46Z","timestamp":1460974966000},"page":"bcr2016214388","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature"],"prefix":"10.1136","volume":"2016","author":[{"given":"Piero","family":"Pavone","sequence":"first","affiliation":[{"name":"Unit of Pediatrics, University Hospital OVE-Policlinico, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea D","family":"Pratic\u00f2","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Campisi","sequence":"additional","affiliation":[{"name":"University-Hospital \u201cPoliclinico-Vittorio Emanuele\u201d, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[{"name":"University-Hospital \u201cPoliclinico-Vittorio Emanuele\u201d, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,4,18]]},"reference":[{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v19.i14.2286"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.2","doi-asserted-by":"publisher","DOI":"10.1086\/507151"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200122"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.3.209"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.3.248"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01026.x"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36266"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36876"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.9","first-page":"e143","article-title":"Interstitial deletion of 10q23.1 and confirmation of three 10qdel syndromes","volume":"52","author":"Singh","year":"2011","journal-title":"Singapore Med J"},{"key":"2025082805254426000_2016.apr18_1.bcr2016214388.10","doi-asserted-by":"publisher","DOI":"10.1086\/504301"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-214388","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:25:55Z","timestamp":1756383955000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-214388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,18]]},"references-count":10,"alternative-id":["10.1136\/bcr-2016-214388"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-214388","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2016,4,18]]}}}