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Correlation between this duplication and the carrier phenotype needs further discussion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, three unrelated patients with ID\/DD and ASD underwent SNP aCGH and MLPA testing. Similarities in the phenotypes of patients with 9p24.3, 15q11.2, and 16p11.2 duplications were also observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients with ID\/DD and ASD carried the 9p24.3 duplication and showed intragenic duplication of <jats:italic>DOCK8<\/jats:italic>. Additionally, two patients had ADHD, one was hearing impaired and obese, and one had macrocephaly. Inheritance of the 9p24.3 duplication was confirmed in one patient and his sibling. In one patient <jats:italic>KANK1<\/jats:italic> was duplicated along with <jats:italic>DOCK8<\/jats:italic>. Carriers of 9p24.3, 15q11.2, and 16p11.2 duplications showed several phenotypic similarities, with ID\/DD more strongly associated with duplication of 9p24.3 than of 15q11.2 and 16p11.2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We concluded that 9p24.3 is a likely cause of ASD and ID\/DD, especially in cases of <jats:italic>DOCK8<\/jats:italic> intragenic duplication. <jats:italic>DOCK8<\/jats:italic> is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1592","type":"journal-article","created":{"date-parts":[[2021,1,17]],"date-time":"2021-01-17T13:01:20Z","timestamp":1610888480000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2533-0765","authenticated-orcid":false,"given":"Zuzana","family":"Capkova","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Hospital Olomouc Olomouc Czech Republic"},{"name":"Department of Medical Genetics Faculty of Medicine and Dentistry Palack\u00fd University Olomouc Olomouc Czech 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