{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:39:59Z","timestamp":1788305999658,"version":"build-2803163510"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T00:00:00Z","timestamp":1613606400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T00:00:00Z","timestamp":1613606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4\u00a0years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12\u00a0months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome  was confirmed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02673-0","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T05:37:50Z","timestamp":1613799470000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Seyedetahere","family":"Mousavi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4451-2804","authenticated-orcid":false,"given":"Batool","family":"Amiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saidee","family":"Beigi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Farzaneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,18]]},"reference":[{"issue":"4","key":"2673_CR1","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1016\/j.fertnstert.2012.08.021","volume":"98","author":"Q Zhong","year":"2012","unstructured":"Zhong Q, Layman LC. Genetic considerations in the patient with Turner syndrome\u201445, X with or without mosaicism. Fertil Steril. 2012;98(4):775\u20139.","journal-title":"Fertil Steril"},{"issue":"2","key":"2673_CR2","doi-asserted-by":"publisher","first-page":"195","DOI":"10.12816\/0006086","volume":"8","author":"I Al Alwan","year":"2014","unstructured":"Al Alwan I, Khadora M, Amir I, Nasrat G, Omair A, Brown L, et al. Turner syndrome genotype and phenotype and their effect on presenting features and timing of diagnosis. Int J Health Sci. 2014;8(2):195.","journal-title":"Int J Health Sci"},{"issue":"1","key":"2673_CR3","doi-asserted-by":"publisher","first-page":"27","DOI":"10.4274\/jcrpe.1771","volume":"7","author":"E Ye\u015filkaya","year":"2015","unstructured":"Ye\u015filkaya E, Bereket A, Darendeliler F, Ba\u015f F, Poyrazo\u011flu \u015e, Ayd\u0131n BK, et al. Turner syndrome and associated problems in Turkish children: a multicenter study. J Clin Res Pediatr Endocrinol. 2015;7(1):27.","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"1","key":"2673_CR4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/1471-2458-7-77","volume":"7","author":"FK Grote","year":"2007","unstructured":"Grote FK, Oostdijk W, Keizer-Schrama SMDM, Dekker FW, van Dommelen P, van Buuren S, et al. Referral patterns of children with poor growth in primary health care. BMC Public Health. 2007;7(1):77.","journal-title":"BMC Public Health"},{"issue":"6","key":"2673_CR5","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1159\/000500780","volume":"91","author":"JM Ahn","year":"2019","unstructured":"Ahn JM, Suh JH, Kwon AR, Chae HW, Kim H-S. Final adult height after growth hormone treatment in patients with Turner syndrome. Horm Res Paediatr. 2019;91(6):373\u20139.","journal-title":"Horm Res Paediatr"},{"key":"2673_CR6","doi-asserted-by":"crossref","unstructured":"Torun D, Kavu\u015f H, \u00d6ztuna A, Akar H, Ak\u0131n O, Tunca Y. Karyotype analysis results in girls followed with short stature. Gulhane Med J. 59(1).","DOI":"10.5455\/gulhane.260924"},{"issue":"4","key":"2673_CR7","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1136\/adc.2003.027839","volume":"89","author":"S van Buuren","year":"2004","unstructured":"van Buuren S, van Dommelen P, Zandwijken GR, Grote FK, Wit JM, Verkerk PH. Towards evidence based referral criteria for growth monitoring. Arch Dis Child. 2004;89(4):336\u201341.","journal-title":"Arch Dis Child"},{"key":"2673_CR8","unstructured":"Salamanca F, Buentello L, Sanchez J, Armendares S, editors. A patient with 44 chromosomes. Annales de genetique; 1985."},{"issue":"4","key":"2673_CR9","first-page":"223","volume":"41","author":"J Laszlo","year":"1984","unstructured":"Laszlo J, B\u00f6sze P, Gaal M, Toth A. A case of 44, X streak gonad syndrome combined with familial balanced 13\/14 translocation. Acta Med Hung. 1984;41(4):223\u20137.","journal-title":"Acta Med Hung"},{"issue":"3","key":"2673_CR10","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1136\/jmg.31.3.255","volume":"31","author":"M Krajinovic","year":"1994","unstructured":"Krajinovic M, Ivanovic K, Mestroni L, Diklic V, Nikolis J. Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner\u2019s syndrome. J Med Genet. 1994;31(3):255\u20136.","journal-title":"J Med Genet"},{"issue":"1","key":"2673_CR11","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1590\/S1415-47572006000100010","volume":"29","author":"da AL Silva","year":"2006","unstructured":"Da Silva AL, Lima RL, Ribeiro LA, Moretti-Ferreira D. X monosomy and balanced Robertsonian translocation in a girl with Turner syndrome. Genet Mol Biol. 2006;29(1):47\u20138.","journal-title":"Genet Mol Biol"},{"issue":"2","key":"2673_CR12","first-page":"59","volume":"4","author":"TC Mari\u00f1o","year":"2010","unstructured":"Mari\u00f1o TC, Mart\u00ednez PAV, Gil JH, Vel\u00e1zquez MM, Pe\u00f1a ES. 44, X, der (15; 22)(q10; q10), a unusual karyotype. A case report. Revista Cubana de Gen\u00e9tica Comunitaria. 2010;4(2):59\u201361.","journal-title":"Revista Cubana de Gen\u00e9tica Comunitaria"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02673-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-021-02673-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02673-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T06:22:29Z","timestamp":1613802149000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02673-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,18]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2673"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02673-0","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,18]]},"assertion":[{"value":"28 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"79"}}