{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:45:56Z","timestamp":1792007156951,"version":"4.4.0"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Duplications of distal 20q are uncommon and the connection to oculo-auriculo-vertebral spectrum (OAVS) is still not clear. In this paper we describe a family-based cytogenetic case of a geographically isolated community in Northern Italy. Clinical data, pedigree information, and cytogenetic report from the proband were collected. Relatives were examined for OAVS-related features. Subtelomeric FISH analysis was performed with probes for 20qter and D22S1726 using peripheral blood lymphocytes to assess the rearrangement in detail. Descriptive statistics with 95% confidence intervals were computed. FISH demonstrated additional terminal material on der (22) consistent with a complex subtelomeric rearrangement and partial trisomy of 20qter. Among the 30 evaluated relatives, 15 (50.0%; exact 95% CI, 31.3\u201368.7) carried the rearrangement. Of these, 5 (33.3%; exact 95% CI, 11.8\u201361.6) exhibited features within the oculo-auriculo-vertebral spectrum, including preauricular tags, microtia or aural atresia, hemi-facial microsomia, ocular anomalies, vertebral defects, congenital heart disease, and hearing impairment. FISH does not provide information about the duplication segment or genes involved; therefore,\n                    <jats:italic>MYT1<\/jats:italic>\n                    inclusion into the duplication cannot be confirmed and requires further chromosomal microarray, SNP-array, MLPA or genome sequencing analysis. In this pedigree, the findings support the distal 20qter\/20q13.33 as a possible candidate genomic region associated with OAVS-related features and support high-resolution genomic studies and genetic counselling in affected families.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2026-0001","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:57:32Z","timestamp":1792004252000},"page":"71-76","source":"Crossref","is-referenced-by-count":0,"title":["Partial Trisomy 20qter on a Derivative Chromosome 22 in a Northern Italian Genetic Isolate with Oculo-Auriculo-Vertebral Spectrum-Related Features"],"prefix":"10.2478","volume":"29","author":[{"given":"M","family":"Imran","sequence":"first","affiliation":[{"name":"MAGI EUREGIO , Bolzano , Italy ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Capodicasa","sequence":"additional","affiliation":[{"name":"MAGI Balkans , Tirana , Albania ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Dida","sequence":"additional","affiliation":[{"name":"MAGI EUREGIO , Bolzano , Italy ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bertelli","sequence":"additional","affiliation":[{"name":"MAGI EUREGIO , Bolzano , Italy ."},{"name":"MAGI\u2019S LAB , Rovereto , Italy ."},{"name":"MAGISNAT OMICS LLC , Atlanta Tech Park , Peachtree Corners , GA , USA ."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,10,14]]},"reference":[{"key":"2026101418572512036_j_bjmg-2026-0001_ref_001","doi-asserted-by":"crossref","unstructured":"Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. Journal of medical genetics. 2022 May 1;59(5):417\u201327.","DOI":"10.1136\/jmedgenet-2021-108219"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_002","doi-asserted-by":"crossref","unstructured":"Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. European Journal of Human Genetics. 2014 Aug;22(8):1026\u201333.","DOI":"10.1038\/ejhg.2013.287"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_003","doi-asserted-by":"crossref","unstructured":"Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. Journal of medical genetics. 2016 Nov 1;53(11):752\u201360.","DOI":"10.1136\/jmedgenet-2016-103774"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_004","doi-asserted-by":"crossref","unstructured":"Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez A, Arveiler B, Lacombe D, Rooryck C. A novel de novo mutation in MYT1, the unique OAVS gene identified so far. European Journal of Human Genetics. 2017 Sep;25(9):1083\u20136.","DOI":"10.1038\/ejhg.2017.101"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_005","doi-asserted-by":"crossref","unstructured":"Zamariolli M, Burssed B, Moys\u00e9s-Oliveira M, Colovati M, Bellucco FT, Dos Santos LC, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms. American Journal of Medical Genetics Part A. 2021 Jul;185(7):2056\u201364.","DOI":"10.1002\/ajmg.a.62217"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_006","doi-asserted-by":"crossref","unstructured":"Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. Journal of medical genetics. 2023 Jun;60(6):620\u20136.","DOI":"10.1136\/jmg-2022-108678"},{"key":"2026101418572512036_j_bjmg-2026-0001_ref_007","doi-asserted-by":"crossref","unstructured":"Starr LJ, Truemper EJ, Pickering DL, Sanger WG, Olney AH. Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications. 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