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Additional physical abnormalities included kyphosis, lumbar scoliosis, pectus carinatum, cubitus valgus, thenar and hypothenar hypoplasia, bilateral hallux valgus, shortening of the Achilles tendon on the left foot, and hypoplasia of the labia minora. Chromosomal analysis identified a ring 14 chromosome with breakpoints in p11 and q32.33. An aCGH study revealed a\u2009~\u20091.7\u00a0Mb deletion on chromosome 14qter, encompassing 23 genes. Genomic instability was evidenced by the presence of micronuclei and aneuploidies involving the ring and other chromosomes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-024-00686-0","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T02:01:31Z","timestamp":1721268091000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report"],"prefix":"10.1186","volume":"17","author":[{"given":"Juan Pablo","family":"Meza-Espinoza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Ram\u00f3n","family":"Gonz\u00e1lez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayeli","family":"Nieto-Mar\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana Itzel","family":"Patr\u00f3n-Baro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Mar\u00eda","family":"Gonz\u00e1lez-Arreola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliakym","family":"Ar\u00e1mbula-Meraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio","family":"Ben\u00edtez-Pascual","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto Kousuke","family":"De la Herr\u00e1n-Arita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia Desire\u00e9","family":"Norzagaray-Valenzuela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco Antonio","family":"Valdez-Flores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1s Adri\u00e1n","family":"Carrillo-C\u00e1zares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica Judith","family":"Picos-C\u00e1rdenas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"key":"686_CR1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1186\/s13023-017-0606-4","volume":"12","author":"B Rinaldi","year":"2017","unstructured":"Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, et al. 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