{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:18:27Z","timestamp":1760149107541,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,7,4]],"date-time":"2023-07-04T00:00:00Z","timestamp":1688428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some specific features, including psychomotor delay, behavioral disorders, and autism spectrum disorder (ASD). Here, a new case of this syndrome is reported in an 11-year-old Caucasian child who presented the classical clinical features of the 17q21.31 microduplication syndrome in association with new clinical characteristics previously unreported. The Array-Comparative Genomic Hybridization (aCGH) revealed a partial duplication of the long arm of chromosome 17. A literature review of previously studied patients with 17q21.31 microduplication syndrome is reported.<\/jats:p>","DOI":"10.3390\/reports6030030","type":"journal-article","created":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T00:37:28Z","timestamp":1688517448000},"page":"30","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability"],"prefix":"10.3390","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2113-6121","authenticated-orcid":false,"given":"Federica","family":"Saia","sequence":"first","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1083-7915","authenticated-orcid":false,"given":"Adriana","family":"Prato","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, Italy"},{"name":"Department of Cognitive Sciences, Psychology, Education and Cultural Studies, University of Messina, 98121 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina Angela","family":"Florio","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo Paolo","family":"Cutrone","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3997-1328","authenticated-orcid":false,"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.ejmg.2007.05.001","article-title":"A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features","volume":"50","author":"Kirchhoff","year":"2007","journal-title":"Eur. 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