{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:00:45Z","timestamp":1791421245694,"version":"4.3.3"},"reference-count":30,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      16p11.2 microdeletion syndrome is a rare genetic condition with wide clinical heterogeneity\n                      <jats:bold>.<\/jats:bold>\n                      Individuals may present a normal phenotype or neurodevelopmental pathology, often associated with nonspecific dysmorphology, epilepsy, cardiac anomalies and obesity, among other characteristics.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Clinical Cases<\/jats:title>\n                    <jats:p>Case 1: Male, 11-year-old, with macrocephaly from 4 months, obesity from 2 years, and speech delay; currently diagnosed with intellectual developmental disorder. Case 2: Female, 13-year-old, referred at 4 years due to language delay; at 6 years, early puberty and obesity were identified; currently recognized as having intellectual developmental disorder and attention-deficit hyperactivity disorder (ADHD). Case 3: Male, 5-year-old, referred at 3 years for global developmental delay, mainly in language; family history of intellectual developmental disorder; currently has global developmental delay. Case 4: Male, 6-year-old, referred at 11 months for motor delay; at 18 months, language delay, motor coordination difficulties, and aggressiveness were noted; recently, he was diagnosed with autism spectrum disorder. Case 5: Male, 14-year-old, with macrocephaly and expressive language delay at 2 years; oppositional behavior and ADHD diagnosed, with learning disabilities and overweight. None of the cases have epilepsy or cardiac pathology. All showed 16p11.2 microdeletion in array-CGH studies and received multidisciplinary follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion\/Conclusion<\/jats:title>\n                    <jats:p>16p11.2 microdeletion syndrome shows significant clinical variability, with common neurodevelopmental involvement. Genetic testing via array-CGH helps establish the etiologic diagnosis, making it essential for individuals with global developmental delay \/ intellectual developmental disorder or autism spectrum disorder. Early diagnosis enables timely intervention and genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738251347576","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T03:09:27Z","timestamp":1750907367000},"page":"94-99","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2819-9130","authenticated-orcid":false,"given":"S\u00edlvia Duarte","family":"Costa","sequence":"first","affiliation":[{"name":"Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Fraga","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00e1dia","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Companhia Uni\u00e3o Fabril (CUF) Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Neurodevelopment Unit, Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Pires","family":"Silva","sequence":"additional","affiliation":[{"name":"Neurodevelopment Unit, Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Espada","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Rita","family":"Soares","sequence":"additional","affiliation":[{"name":"Medical Genetics Consultation, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"},{"name":"ULS Santo Ant\u00f3nio"},{"name":"Institute of Biomedical Sciences Abel Salazar (ICBAS)"},{"name":"ITR-Laboratory for Integrative and Translational Research in Population Health"},{"name":"Genetyca by Atrys, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cec\u00edlia","family":"Martins","sequence":"additional","affiliation":[{"name":"Neurodevelopment Unit, Pediatrics Department, Unidade Local de Sa\u00fade de Matosinhos - Hospital Pedro Hispano (ULSM-HPH), Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"key":"e_1_3_2_2_2","unstructured":"Online Mendelian Inheritance in Man OMIM. http:\/\/www.ncbi.nlm.nih.gov\/Omim\/."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.4845"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35946"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101203"},{"key":"e_1_3_2_6_2","first-page":"9253","article-title":"Rare pathogenic copy number variation in the 16p11.2 (BP4-BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature","volume":"17","author":"Oliva-Teles N","unstructured":"Oliva-Teles N, de Stefano MC, Gallagher L, et al. 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