{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T02:57:31Z","timestamp":1774061851570,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T00:00:00Z","timestamp":1694304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 MH110701"],"award-info":[{"award-number":["R01 MH110701"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM0008490"],"award-info":[{"award-number":["T32 GM0008490"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6\u2009Mb deletion (hg19, chr3:195725000\u2013197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing &gt;40\u2010fold increased risk for schizophrenia, but medical phenotypes are less well\u2010described. We used the online 3q29 registry of 206 individuals (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/3q29deletion.org\">3q29deletion.org<\/jats:ext-link>\n                    ) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30\u2009min or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63384","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T01:30:48Z","timestamp":1694395848000},"page":"2749-2756","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Musculoskeletal phenotypes in 3q29 deletion syndrome"],"prefix":"10.1002","volume":"191","author":[{"given":"Rebecca M.","family":"Pollak","sequence":"first","affiliation":[{"name":"Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School Rutgers University  Piscataway New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob C.","family":"Tilmon","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossana","family":"Sanchez Russo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P.","family":"Dormans","sequence":"additional","affiliation":[{"name":"Emeritus Professor of Orthopedic Surgery University of Pennsylvania  Philadelphia Pennsylvania 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