{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:05:25Z","timestamp":1756425925365,"version":"3.44.0"},"reference-count":33,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"abstract":"<jats:p>Introduction: Partial trisomy of the 6q24qter region is a rare chromosomal disorder characterized by variable clinical features and poorly understood mechanistic origins. Case Presentation: We describe a de novo complex der(6) chromosome in a patient with features consistent with partial 6q trisomy syndrome, including congenital heart disease, growth restriction, developmental delay, and dysmorphic traits. Molecular Findings: Whole-genome sequencing (WGS) identified duplications of 1.5 Mb on 6p25.3 and 23.3 Mb on 6q24.3\u2013qter. While the 6p duplication appears benign, the phenotype is likely driven by dosage-sensitive 6q genes (ARID1B, TAB2, QKI) and possible additive effects from other duplicated genes. No parental pericentric inversion was detected by classical or molecular cytogenetics, and WGS revealed no inversion-associated breakpoints. Instead, chimeric (q\u2212\/q+) and truncated reads at the 6q junction support a replication-based origin, such as reversed template switching. FISH confirmed direct insertion of the 6q segment into 6p25.3, without a del\/dup pattern typical of inversion-derived recombinants. Notably, WGS detected no direct 6p-6q junction reads but identified chimeric 6p-15q-6q reads with 2-bp microhomologies, suggesting that chromosome 15 transiently mediated the rearrangement. Interspersed telomeric sequences and flanking Alu elements were also found at both breakpoints. Conclusion: Altogether, these findings support a model in which replication fork stalling and template switching \u2013 potentially facilitated by telomere dynamics and repetitive elements \u2013 led to the formation of a recombinant-like der(6) chromosome. This case highlights the mechanistic complexity of structural rearrangements and the role of replication-based errors in shaping human genomic variation. <\/jats:p>","DOI":"10.1159\/000547454","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T16:03:06Z","timestamp":1752854586000},"page":"1-8","source":"Crossref","is-referenced-by-count":0,"title":["Fork Stalling and Template Switching in a Complex der(6)dn with Duplication of 6q24.3qter and 6p25.3: A Case Report"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2645-4161","authenticated-orcid":false,"given":"Thania Alejandra","family":"Aguayo-Orozco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9451-6483","authenticated-orcid":false,"given":"Ma. Guadalupe","family":"Dom\u00ednguez-Quezada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis E.","family":"Figuera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Esparza-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8058-4100","authenticated-orcid":false,"given":"Luis \u00c1ngel","family":"N\u00fa\u00f1ez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elvira","family":"Garza-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"C\u00f3rdova-Fletes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31435"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000024091"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.120"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000351184"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000503574"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2012.02.012"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2015.25"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000544969"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giab008"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1101\/gr.221028.117"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi0410s05"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq033"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1004873"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1089\/omi.2011.0118"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt285"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0330-z"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00948-0"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvad007"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1694703"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01818.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2287-8"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/nature19075"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.3343\/kjlm.2010.30.3.318"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1159\/000315887"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550209.x"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2864"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2640"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2593"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-4"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000547454","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T16:01:11Z","timestamp":1756396871000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000547454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,17]]},"references-count":33,"URL":"https:\/\/doi.org\/10.1159\/000547454","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.29571392","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2025,7,17]]}}}