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For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9\u00a0Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54\u00a0Mb up to 15.16\u00a0Mb.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1013","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T15:41:35Z","timestamp":1573832495000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications"],"prefix":"10.1002","volume":"8","author":[{"given":"Lynnea","family":"Myers","sequence":"first","affiliation":[{"name":"Center of Neurodevelopmental Disorders (KIND) Centre for Psychiatry Research Department of Women\u2019s and Children\u2019s Health Karolinska Institutet &amp; 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