{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:33:58Z","timestamp":1783038838342,"version":"3.54.6"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T00:00:00Z","timestamp":1648684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T00:00:00Z","timestamp":1648684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004761","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"crossref","award":["2019JJ60080"],"award-info":[{"award-number":["2019JJ60080"]}],"id":[{"id":"10.13039\/501100004761","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, resulting in the formation of a complete ring. Mosaic X-ring chromosomes are extremely rare and have highly variable phenotypes. Here, we report a case with a mosaic X-ring chromosome in a patient with Turner syndrome, and we illustrate the unreported complicated mechanism using chromosome analysis and fluorescence in situ hybridization <jats:bold>(<\/jats:bold>FISH).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 10-year-old girl of short stature presenting Turner syndrome was admitted to our hospital. The patient\u2019s clinical characteristics were subsequently documented. Genetic analysis showed a karyotype of mostly 45,X[140]\/46,X,r(X)[60]. The X ring chromosome was cytogenetically characterized as 45,X\/46,X,r(X)(p22.32q21.1), with a length of approximately 74\u00a0Mb.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Taken together, we report a rare case with a mosaic X ring chromosome in Turner syndrome and we believe this case expands our collective knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling for Turner syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-022-00593-2","type":"journal-article","created":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T12:03:19Z","timestamp":1648728199000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome"],"prefix":"10.1186","volume":"15","author":[{"given":"Hunjin","family":"Luo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Ni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Qiong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Min","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongping","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sainan","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tang","family":"Dan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Xiang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunliu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,31]]},"reference":[{"issue":"10","key":"593_CR1","doi-asserted-by":"publisher","first-page":"3897","DOI":"10.1210\/jc.2006-0558","volume":"91","author":"K Stochholm","year":"2006","unstructured":"Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91(10):3897\u2013902.","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"593_CR2","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1067\/mpd.2003.95","volume":"142","author":"F \u00c1lvarez-Nava","year":"2003","unstructured":"\u00c1lvarez-Nava F, Soto M, Sanchez MA, Fernandez E, Lanes R. Molecular analysis in Turner syndrome. J Pediatr. 2003;142(3):336\u201340.","journal-title":"J Pediatr"},{"issue":"10","key":"593_CR3","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/s41574-019-0224-4","volume":"15","author":"CH Gravholt","year":"2019","unstructured":"Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. 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Gynecol Endocrinol J Int Soc Gynecol Endocrinol. 2021;37(8):730\u20134.","journal-title":"Gynecol Endocrinol J Int Soc Gynecol Endocrinol"},{"issue":"9","key":"593_CR6","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1007\/s10815-016-0761-x","volume":"33","author":"P Chauhan","year":"2016","unstructured":"Chauhan P, Jaiswal SK, Lakhotia AR, Rai AK. Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome. J Assist Reprod Genet. 2016;33(9):1161\u20138.","journal-title":"J Assist Reprod Genet"},{"issue":"10","key":"593_CR7","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.3346\/jkms.2012.27.10.1273","volume":"27","author":"EH Cho","year":"2012","unstructured":"Cho EH, Kim SY, Kim JK. A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome. 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Written informed consent was obtained from the patient who participated in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15"}}