{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:38:46Z","timestamp":1740141526469,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T00:00:00Z","timestamp":1510617600000},"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":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a \u201cminimal\u201d form of holoprosencephaly. This appears to be the first description in a 14q deletion patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38378","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T16:25:44Z","timestamp":1510676744000},"page":"3216-3220","source":"Crossref","is-referenced-by-count":2,"title":["\u201cMinimal\u201d holoprosencephaly in a 14q deletion syndrome patient"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4921-9615","authenticated-orcid":false,"given":"Elvio","family":"Della Giustina","sequence":"first","affiliation":[{"name":"Child Neurology Unit IRCCS Santa Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Iodice","sequence":"additional","affiliation":[{"name":"Child Neurology Unit IRCCS Santa Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlotta","family":"Spagnoli","sequence":"additional","affiliation":[{"name":"Child Neurology Unit IRCCS Santa Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Giovannini","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Bellaria Hospital IRCCS Institute of Neurological Sciences Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[{"name":"Child Neurology Unit IRCCS Santa Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Child Neurology Unit IRCCS Santa Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Gobbi","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Bellaria Hospital IRCCS Institute of Neurological Sciences Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Catholic University School of Medicine Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7642-0130","authenticated-orcid":false,"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Catholic University School of Medicine Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.171.1.2928524"},{"key":"e_1_2_6_3_1","first-page":"431","article-title":"Middle interhemispheric fusion: An unusual variant of holopeosencephaly","volume":"14","author":"Barkovich A. J.","year":"1993","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.9.777"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3928\/0191-3913-20060301-11","article-title":"Ocular manifestations of chromosome 14 terminal deletion","volume":"43","author":"Chung I.","year":"2006","journal-title":"Journal of Pediatric Ophthalmology and Strabismus"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2123"},{"key":"e_1_2_6_7_1","first-page":"216","article-title":"Neurexins 1\u20103 each have a distinct pattern of expression in the early developing human cerebral cortex","volume":"27","author":"Harkin L. F.","year":"2017","journal-title":"Cerebral Cortex"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.01.010"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30660"},{"key":"e_1_2_6_10_1","first-page":"269","article-title":"Holoprosencephaly associated with 46,XX,del(14)(q11.1q13)","volume":"49","author":"Levin SW","year":"1991","journal-title":"The American Journal of Human Genetics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024001-0200-5"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31438"},{"key":"e_1_2_6_13_1","first-page":"341","article-title":"14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies","volume":"11","author":"Mertens D. J.","year":"2000","journal-title":"Journal of Genetic Counseling"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0196-6"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901401116"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.515"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32064"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201977"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.02.010"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282092"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32831"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:41:51Z","timestamp":1696610511000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,14]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/ajmg.a.38378"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38378","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,11,14]]}}}