{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:26:19Z","timestamp":1790835979082,"version":"4.1.0"},"reference-count":57,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T00:00:00Z","timestamp":1587945600000},"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>Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining followed by M-FISH (TC+M-FISH) for improved detection of telomere dysfunction and the identification of dicentric chromosomes in cancer patients and various genetic syndromes. Significant telomere length shortening and significantly higher frequencies of telomere loss and deletion were found in the peripheral lymphocytes of patients with cancer and genetic syndromes relative to similar age-matched healthy donors. We assessed our technique against conventional cytogenetics for the detection of dicentric chromosomes by subjecting metaphase preparations to both approaches. We identified dicentric chromosomes in 28\/50 cancer patients and 21\/44 genetic syndrome patients using our approach, but only 7\/50 and 12\/44, respectively, using standard cytogenetics. We ascribe this discrepancy to the identification of the unique configuration of dicentric chromosomes. We observed significantly higher frequencies of telomere loss and deletion in patients with dicentric chromosomes (p &lt; 10\u22124). TC+M-FISH analysis is superior to classical cytogenetics for the detection of chromosomal instability. Our approach is a relatively simple but useful tool for documenting telomere dysfunction and chromosomal instability with the potential to become a standard additional diagnostic tool in medical genetics and the clinic.<\/jats:p>","DOI":"10.3390\/genes11050475","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T01:29:15Z","timestamp":1588123755000},"page":"475","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0639-4760","authenticated-orcid":false,"given":"Radhia","family":"M\u2019kacher","sequence":"first","affiliation":[{"name":"Cell Environment, DNA Damage R&amp;D, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, 68093 Mulhouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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\/ Inserm UMR 935, 94800 Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Junker","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine, University of Aarhus, DK-8000 Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Marquet","sequence":"additional","affiliation":[{"name":"Service de Cytog\u00e9n\u00e9tique, G\u00e9n\u00e9tique M\u00e9dicale, et Biologie de la Reproduction H\u00f4pital de la M\u00e8re et de l\u2019Enfant, CHU Dupuytren, 87042 Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonhard","family":"Heidingsfelder","sequence":"additional","affiliation":[{"name":"MetaSystems GmbH, Robert-Bosch-Str., 6 D-68804 Altlussheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Soehnlen","sequence":"additional","affiliation":[{"name":"Cell Environment, DNA Damage R&amp;D, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wala","family":"Najar","sequence":"additional","affiliation":[{"name":"Cell Environment, DNA Damage R&amp;D, 75020 Paris, France"},{"name":"IRIMAS, Institut de Recherche en 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