{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T02:36:59Z","timestamp":1773196619420,"version":"3.50.1"},"reference-count":43,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric\/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4\u2013BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed\/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers\u2019 cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting.<\/jats:p>","DOI":"10.3390\/ijerph17249253","type":"journal-article","created":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T20:18:22Z","timestamp":1607631502000},"page":"9253","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4\u2013BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1295-3701","authenticated-orcid":false,"given":"Nat\u00e1lia","family":"Oliva-Teles","sequence":"first","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es\/Centro Hospitalar Universit\u00e1rio do Porto, 4099-001 Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar, University of Porto (UMIB\/ICBAS\/UP), 4050-313 Porto, Portugal"}]},{"given":"Maria Chiara","family":"de Stefano","sequence":"additional","affiliation":[{"name":"Italian National Transplant Center, Italian National Institute of Health, 00161 Rome, Italy"}]},{"given":"Louise","family":"Gallagher","sequence":"additional","affiliation":[{"name":"Trinity Institute of Neurosciences, Trinity College Dublin, University of Dublin, 152-160 Dublin, Ireland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5401-3614","authenticated-orcid":false,"given":"Severin","family":"Rakic","sequence":"additional","affiliation":[{"name":"Public Health Institute of Republic of Srpska, 78000 Banja Luka, Bosnia and Herzegovina"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6507-222X","authenticated-orcid":false,"given":"Paula","family":"Jorge","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es\/Centro Hospitalar Universit\u00e1rio do Porto, 4099-001 Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar, University of Porto (UMIB\/ICBAS\/UP), 4050-313 Porto, Portugal"}]},{"given":"Goran","family":"Cuturilo","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia"},{"name":"Department of Medical Genetics, University Children\u2019s Hospital, Tirsova 10, 11000 Belgrade, Serbia"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9403-7343","authenticated-orcid":false,"given":"Silvana","family":"Markovska-Simoska","sequence":"additional","affiliation":[{"name":"Macedonian Academy of Sciences and Arts, 1000 Skopje, North Macedonia"}]},{"given":"Isabella","family":"Borg","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta"},{"name":"Medical Genetics Unit, Mater Dei Hospital, MSD 2090 L-Imsida, Malta"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6160-9731","authenticated-orcid":false,"given":"Jeanne","family":"Wolstencroft","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-5802","authenticated-orcid":false,"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhangen, Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark"}]},{"given":"Adrian J.","family":"Harwood","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Research Institute (NMHRI), &amp; School of Biosciences, Cardiff University, Cardiff CF24 4HQ, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6904-7451","authenticated-orcid":false,"given":"Yllka","family":"Kodra","sequence":"additional","affiliation":[{"name":"National Centre for Rare Diseases, Istituto Superiore di Sanit\u00e0, 00161 Rome, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7891-5732","authenticated-orcid":false,"given":"David","family":"Skuse","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.jaac.2013.05.013","article-title":"Copy Number Variation: What Is It and What","volume":"52","author":"Thapar","year":"2013","journal-title":"J. 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