{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:09:38Z","timestamp":1769598578442,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and reviewed the genes in the region to provide genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinical features of the patient include minor dysmorphic facial features, shorthands and feet, bilateral conductive hearing loss, global developmental delay, and behavioral issues with attention deficit hyperactivity disorder. Together with previously published cases of 20q11 duplication, we show that patients with overlapping duplications share a similar clinical phenotype of dysmorphic craniofacial features and developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report an 8\u2010year\u2010old girl with a 9.1\u00a0Mb interstitial duplication of chromosome 20q11.22q13.11. Our observations suggest that a novel duplication syndrome and documentation of similar cases will further help clarify the phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1755","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T07:40:09Z","timestamp":1626421209000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Interstitial duplication of 20q11.22q13.11: A case report and review of literature"],"prefix":"10.1002","volume":"9","author":[{"given":"Logan","family":"Goetzinger","sequence":"first","affiliation":[{"name":"Carver College of Medicine University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel D.","family":"Starks","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6383-5417","authenticated-orcid":false,"given":"Kyle","family":"Dillahunt","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Major","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime M.","family":"Nagy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8980-5029","authenticated-orcid":false,"given":"Alpa","family":"Sidhu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35970"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32278"},{"issue":"7","key":"e_1_2_8_4_1","first-page":"511","article-title":"Applications of comparative genomic hybridisation in constitutional chromosome studies","volume":"36","author":"Breen C. 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Y.","year":"2005","journal-title":"Genetic Counseling"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1755","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1755","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1755","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:46:28Z","timestamp":1693331188000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,16]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/mgg3.1755"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1755","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,16]]},"assertion":[{"value":"2021-03-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1755"}}