{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T04:03:58Z","timestamp":1784347438054,"version":"3.55.0"},"reference-count":29,"publisher":"Japanese Society of Internal Medicine","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2026,7,15]]},"DOI":"10.2169\/internalmedicine.6137-25","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T22:08:05Z","timestamp":1765404485000},"page":"1930-1936","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature"],"prefix":"10.2169","volume":"65","author":[{"given":"Ayaka","family":"Harada","sequence":"first","affiliation":[{"name":"Department of Diabetes, Metabolism and Endocrinology, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takatoshi","family":"Anno","sequence":"additional","affiliation":[{"name":"Department of Diabetic Medicine, Kurashiki Central Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of General Internal Medicine 1, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohei","family":"Kaku","sequence":"additional","affiliation":[{"name":"Department of General Internal Medicine 1, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Kaneto","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Metabolism and Endocrinology, Kawasaki Medical School, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Wolff DJ, Van Dyke DL, Powell CM; Working Group of the ACMG Laboratory Quality Assurance Committee. Laboratory guideline for Turner syndrome. Genet Med 12: 52-55, 2010.","DOI":"10.1097\/GIM.0b013e3181c684b2"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Ogata T, Muroya K, Matsuo N, et al. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. J Clin Endocrinol Metab 86: 5498-5508, 2001.","DOI":"10.1210\/jcem.86.11.8058"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Miga KH, Koren S, Rhie A, Vollger MR, Gershman A, et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature 585: 79-84, 2020.","DOI":"10.1038\/s41586-020-2547-7"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Galupa R, Heard E. X-chromosome inactivation: a crossroads between chromosome architecture and gene regulation. Annu Rev Genet 52: 535-566, 2018.","DOI":"10.1146\/annurev-genet-120116-024611"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Russell LM, Strike P, Browne CE, Jacobs PA. X chromosome loss and ageing. Cytogenet Genome Res 116: 181-185, 2007.","DOI":"10.1159\/000098184"},{"key":"6","unstructured":"6. Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol 190: G53-G151, 2024."},{"key":"7","unstructured":"7. Fiot E, Alauze B, Donadille B, et al. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). Orphanet J Rare Dis 17: 261, 2022."},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Tanoshima M, Tanoshima R, Takase H, et al. Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: systematic review. Congenit Anom (Kyoto) 65: e70002, 2025.","DOI":"10.1111\/cga.70002"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16: 54-63, 1997.","DOI":"10.1038\/ng0597-54"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Kosho T, Muroya K, Nagai T, et al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 84: 4613-4621, 1999.","DOI":"10.1210\/jc.84.12.4613"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Schlessinger D, Herrera L, Crisponi L, et al. Genes and translocations involved in POF. Am J Med Genet 111: 328-333, 2002.","DOI":"10.1002\/ajmg.10565"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Jones MH, Furlong RA, Burkin H, et al. The <i>Drosophila<\/i> developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. Hum Mol Genet 5: 1695-1701, 1996.","DOI":"10.1093\/hmg\/5.11.1695"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Zinn AR, Tonk VS, Chen Z, et al. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 63: 1757-1766, 1998.","DOI":"10.1086\/302152"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Chitayat D, Kalousek DK, Bamforth JS. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 33: 352-356, 1989.","DOI":"10.1002\/ajmg.1320330313"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev Disabil Res Rev 15: 270-278, 2009.","DOI":"10.1002\/ddrr.79"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Calcaterra V, Klersy C, Muratori T, et al. Thyroid ultrasound in patients with Turner syndrome: influence of clinical and auxological parameters. J Endocrinol Invest 34: 260-264, 2011.","DOI":"10.1007\/BF03347082"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Downey J, Elkin EJ, Ehrhardt AA, et al. Cognitive ability and everyday functioning in women with Turner syndrome. J Learn Disabil 24: 32-39, 1991.","DOI":"10.1177\/002221949102400107"},{"key":"18","doi-asserted-by":"publisher","unstructured":"18. Skuse DH, James RS, Bishop DV, et al. Evidence from Turner&apos;s syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387: 705-708, 1997.","DOI":"10.1038\/42706"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Calcaterra V, Klersy C, Muratori T, et al. Thyroid ultrasound in patients with Turner syndrome: influence of clinical and auxological parameters. J Endocrinol Invest 34: 260-264, 2011.","DOI":"10.1007\/BF03347082"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Chen RM, Zhang Y, Yang XH, Lin XQ, Yuan X. Thyroid disease in Chinese girls with Turner syndrome. J Pediatr Endocrinol Metab 28: 201-205, 2015.","DOI":"10.1515\/jpem-2014-0199"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Hum Genet 91: 551-562, 1993.","DOI":"10.1007\/BF00205079"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. James RS, Coppin B, Dalton P, et al. A study of females with deletions of the short arm of the X chromosome. Hum Genet 102: 507-516, 1998.","DOI":"10.1007\/s004390050733"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Al Alwan I, Khadora M, Amir I, et al. Turner syndrome genotype and phenotype and their effect on presenting features and timing of diagnosis. Int J Health Sci (Qassim) 8: 195-202, 2014.","DOI":"10.12816\/0006086"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Holle JR, Marsh RA, Holdcroft AM, et al. Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation. Pediatr Blood Cancer 62: 1288-1290, 2015.","DOI":"10.1002\/pbc.25483"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Minks J, Robinson WP, Brown CJ. A skewed view of X chromosome inactivation. J Clin Invest 118: 20-23, 2008.","DOI":"10.1172\/JCI34470"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Vasu VR, Chandra N, Santhiya ST. X;7 translocation in an Indian woman with hypergonadotropic amenorrhea-a case report. Genet Test Mol Biomarkers 13: 533-536, 2009.","DOI":"10.1089\/gtmb.2009.0051"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Waters JJ, Campbell PL, Crocker AJ, Campbell CM. Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet 108: 318-327, 2001.","DOI":"10.1007\/s004390100465"},{"key":"28","unstructured":"28. Sauer F, Greenstein RM, Reardon P, Riddick DH. Secondary amenorrhea associated with balanced X-autosome translocation. Obstet Gynecol 49: 101-104, 1977."},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Mattei MG, Mattei JF, Ayme S, Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 61: 295-309, 1982.","DOI":"10.1007\/BF00276593"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/14\/65_6137-25\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T03:26:13Z","timestamp":1784345173000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/14\/65_6137-25\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,15]]},"references-count":29,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.6137-25","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,15]]},"article-number":"6137-25"}}