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Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/3q29deletion.patientcrossroads.org\/\">https:\/\/3q29.com<\/jats:ext-link>\n                    ) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale and Child Behavior Checklist\/Adult Behavior Checklist, to assess social disability. Participants with 3q29dup report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self\u2010reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an autism susceptibility locus. This is the most comprehensive description of 3q29dup to date. Our findings can be used to develop evidence\u2010based strategies for early intervention and management of 3q29dup.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61540","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T05:33:31Z","timestamp":1583818411000},"page":"1152-1166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0428-240X","authenticated-orcid":false,"given":"Rebecca M.","family":"Pollak","sequence":"first","affiliation":[{"name":"Genetics and Molecular Biology, Laney Graduate School Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael C.","family":"Zinsmeister","sequence":"additional","affiliation":[{"name":"Genetic Counseling Training Program, School of Medicine Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, School of Medicine Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E.","family":"Zwick","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, School of Medicine Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Emory 3q29 Project","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8593-8468","authenticated-orcid":false,"given":"Jennifer G.","family":"Mulle","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, School of Medicine Emory University  Atlanta Georgia USA"},{"name":"Department of Epidemiology, Rollins School of Public Health Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Manual for the ASEBA school\u2010age forms and profiles","author":"Achenbach T. 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