{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:51Z","timestamp":1753861791567,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4\u2010month\u2010old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q. Optical genome mapping (OGM) was performed to further characterize the triplication. We compared the clinical features of our proband with previous case reports of individuals with duplications or triplications in the region to identify a phenotype. Common features appear to include short stature, developmental delays, learning difficulties, and cardiac malformations. We discuss genes in the region with a reported role in cardiac development, hypothesize that the triplication may have resulted from microhomology\u2010mediated break\u2010induced replication, and discuss the utility and limitations of OGM in this case. To our knowledge, this is the first reported case of a <jats:italic>de novo<\/jats:italic> triplication of 5q21.3q23.3.<\/jats:p>","DOI":"10.1002\/ajmg.a.63969","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T10:54:41Z","timestamp":1734951281000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8481-3559","authenticated-orcid":false,"given":"Jacob A.","family":"Ginter","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics University of Iowa Health Care  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0911-822X","authenticated-orcid":false,"given":"Sarah","family":"Beaudry","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics University of Iowa Health Care  Iowa City Iowa USA"},{"name":"Shivanand R. Patil Cytogenetics and Molecular Laboratory University of Iowa Health Care  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalya","family":"Guseva","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Health Care  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7945-4050","authenticated-orcid":false,"given":"Jaime","family":"Nagy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics University of Iowa Health Care  Iowa City Iowa USA"},{"name":"Shivanand R. Patil Cytogenetics and Molecular Laboratory University of Iowa Health Care  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5404-6229","authenticated-orcid":false,"given":"Aaron A.","family":"Stence","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Health Care  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, Stead Family Department of Pediatrics University of Iowa Health Care  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20568"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108137.2009.03087.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1207726109"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2023.12.003"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2015.25"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190419"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006446"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.003"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.05.012"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200109"},{"key":"e_1_2_10_13_1","article-title":"LMNB1\u2010Related Autosomal Dominant Leukodystrophy","author":"Raininko R.","year":"2021","journal-title":"GeneReviews"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342914"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000384"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2015.03.011"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010014\u20101725\u2010x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.06.007"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102121\u201015\u201032"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T08:11:47Z","timestamp":1743840707000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,23]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/ajmg.a.63969"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63969","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,12,23]]},"assertion":[{"value":"2024-06-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63969"}}