{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:23:59Z","timestamp":1745468639631,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Ring chromosomes generally result from the fusion of breaks at the ends of both arms of a chromosome, typically leading to the loss of genetic material from these ends. Case Presentation: We report the case of a four-year-old patient who exhibits multiple caf\u00e9-au-lait spots, hypochromic spots, bitemporal narrowing, bilateral epicanthus, patent foramen ovale, and multiple brain abnormalities identified through magnetic resonance imaging. Karyotyping revealed a ring chromosome: r(12). Chromosomal microarray analysis revealed a ~3.6 Mb deletion in the short arm and a ~1.2 Mb deletion in the long arm of chromosome 12. The patient's phenotype is consistent with these genetic imbalances. To investigate ring chromosome instability and mosaicism, 200 metaphases were analyzed using G-banding and FISH with a whole chromosome painting probe, identifying 166 cells with a 46,XX,r(12) karyotype, 20 cells with monosomy 12, eight with a dicentric ring chromosome, three with two monocentric rings, two with two interlocked dicentrics, and one with an open ring chromosome. Conclusion: This study provided a detailed characterization of the ring rearrangement of chromosome 12, the first with SNP-array, enhancing the understanding of its genetic and phenotypic implications, and contributing to expanding knowledge about this condition. Additionally, the findings can aid in better understanding the patient\u2019s prognosis, clinical follow-up, and genetic counseling.<\/jats:p>","DOI":"10.1159\/000545023","type":"journal-article","created":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T17:39:50Z","timestamp":1742492390000},"page":"1-12","source":"Crossref","is-referenced-by-count":0,"title":["CLINICAL CHARACTERIZATION AND CYTOGENETIC-MOLECULAR STUDY OF A PATIENT WITH A RING CHROMOSOME 12"],"prefix":"10.1159","author":[{"given":"Vin\u00edcius Almeida","family":"da N\u00f3brega","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella Rodrigues","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rayana Elias","family":"Maia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,3,20]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000545023\/4354423\/000545023.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000545023\/4354423\/000545023.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:19:21Z","timestamp":1745421561000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000545023"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,20]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000545023","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28613948","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2025,3,20]]}}}