{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:37:30Z","timestamp":1760243850787,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Telomeres play a major role in maintaining genome stability and integrity. Putative involvement of telomere dysfunction in the formation of various types of chromosomal aberrations is an area of active research. Here, we report a case of a six-month-old boy with a chromosomal gain encompassing the 11q22.3q25 region identified by SNP array analysis. The size of the duplication is 26.7 Mb and contains 170 genes (OMIM). The duplication results in partial trisomy of the region in question with clinical consequences, including bilateral renal dysplasia, delayed development, and a heart defect. Moreover, the karyotype determined by R-banding and chromosome painting as well as by hybridization with specific sub-telomere probes revealed the presence of an unbalanced t(9;11)(p24;q22.3) translocation with a unique breakpoint involving the sub-telomere region of the short arm of chromosome 9. The karyotypes of the parents were normal. Telomere integrity in circulating lymphocytes from the child and from his parents was assessed using an automated high-throughput method based on fluorescence in situ hybridization (FISH) with telomere- and centromere-specific PNA probes followed by M-FISH multicolor karyotyping. Very short telomeres, as well as an increased frequency of telomere loss and formation of telomere doublets, were detected in the child\u2019s cells. Interestingly, similar telomere profiles were found in the circulating lymphocytes of the father. Moreover, an assessment of clonal telomere aberrations identified chromosomes 9 and 11 with particularly high frequencies of such aberrations. These findings strongly suggest that telomere dysfunction plays a central role in the formation of this specific unbalanced chromosome rearrangement via chromosome end-to-end fusion and breakage\u2013fusion\u2013bridge cycles.<\/jats:p>","DOI":"10.3390\/genes13101762","type":"journal-article","created":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T21:03:10Z","timestamp":1664485390000},"page":"1762","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy"],"prefix":"10.3390","volume":"13","author":[{"given":"Radhia","family":"M\u2019Kacher","sequence":"first","affiliation":[{"name":"Cell Environment DNA Damage R&D, Genopole, 91058 Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marguerite","family":"Miguet","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, Groupe Hospitalier de la R\u00e9gion de Mulhouse Sud-Alsace, 68070 Mulhouse, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7766-1072","authenticated-orcid":false,"given":"Pierre-Yves","family":"Maillard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg, H\u00f4pital de Haute Pierre, 1, Rue Moli\u00e8re, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1742-8631","authenticated-orcid":false,"given":"Bruno","family":"Colicchio","sequence":"additional","affiliation":[{"name":"IRIMAS, Institut de Recherche en Informatique, Math\u00e9matiques, Automatique et Signal, Universit\u00e9 de Haute-Alsace, 68070 Mulhouse, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Scheidecker","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, Nouvel H\u00f4pital Civil, 1, Place de l\u2019H\u00f4pital, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wala","family":"Najar","sequence":"additional","affiliation":[{"name":"Cell Environment DNA Damage R&D, Genopole, 91058 Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micheline","family":"Arnoux","sequence":"additional","affiliation":[{"name":"APHP-Service d\u2019H\u00e9matologie-Oncoh\u00e9matologie Mol\u00e9culaire et Cytog\u00e9n\u00e9tique H\u00f4pital Paul Brousse Universit\u00e9 Paris Saclay, 94801 Villejuif, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noufissa","family":"Oudrhiri","sequence":"additional","affiliation":[{"name":"APHP-Service d\u2019H\u00e9matologie-Oncoh\u00e9matologie Mol\u00e9culaire et Cytog\u00e9n\u00e9tique H\u00f4pital Paul Brousse Universit\u00e9 Paris Saclay, 94801 Villejuif, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Borie","sequence":"additional","affiliation":[{"name":"APHP-Service d\u2019H\u00e9matologie-Oncoh\u00e9matologie Mol\u00e9culaire et Cytog\u00e9n\u00e9tique H\u00f4pital Paul Brousse Universit\u00e9 Paris Saclay, 94801 Villejuif, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaux","family":"Biehler","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, Nouvel H\u00f4pital Civil, 1, Place de l\u2019H\u00f4pital, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Plesch","sequence":"additional","affiliation":[{"name":"MetaSystems GmbH, Robert-Bosch-Str. 6, 68804 Altlussheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonhard","family":"Heidingsfelder","sequence":"additional","affiliation":[{"name":"MetaSystems GmbH, Robert-Bosch-Str. 6, 68804 Altlussheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annelise","family":"Bennaceur-Griscelli","sequence":"additional","affiliation":[{"name":"APHP-Service d\u2019H\u00e9matologie-Oncoh\u00e9matologie Mol\u00e9culaire et Cytog\u00e9n\u00e9tique H\u00f4pital Paul Brousse Universit\u00e9 Paris Saclay, 94801 Villejuif, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Dieterlen","sequence":"additional","affiliation":[{"name":"IRIMAS, Institut de Recherche en Informatique, Math\u00e9matiques, Automatique et Signal, Universit\u00e9 de Haute-Alsace, 68070 Mulhouse, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Voisin","sequence":"additional","affiliation":[{"name":"Cell Environment DNA Damage R&D, Genopole, 91058 Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Junker","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine, University of Aarhus, 8000 Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Carde","sequence":"additional","affiliation":[{"name":"Department of Hematology Gustave Roussy Cancer Campus, Paris Saclay, 94805 Villejuif, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-0770","authenticated-orcid":false,"given":"Eric","family":"Jeandidier","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, Groupe Hospitalier de la R\u00e9gion de Mulhouse Sud-Alsace, 68070 Mulhouse, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/ajmg.a.32463","article-title":"Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy","volume":"149","author":"Balasubramanian","year":"2009","journal-title":"Am. 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