{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:42Z","timestamp":1740160482523,"version":"3.37.3"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"DOI":"10.13039\/501100003010","name":"Ege \u00dcniversitesi","doi-asserted-by":"publisher","award":["TGA-2020-20851"],"award-info":[{"award-number":["TGA-2020-20851"]}],"id":[{"id":"10.13039\/501100003010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0153_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most important characteristic findings of TS. Turner syndrome karyotypes include monosomy X, mosaic structure and X chromosome structural anomalies. Genotypic and phenotypic characteristics vary among cases. This study aimed to evaluate the clinical variations observed in TS cases with the copy number variations (CNV) detected by microarray study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0153_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Fifty-three patients diagnosed with TS, between the ages of 0\u201318 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0153_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Karyotypes were as follows: thirty-three of cases were 45,X,\u00a07 were 45,X\/46,XX, 6 were 45,X\/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X\/46,r(X), 1 was 45,X\/46,Xi(Xp), 1 was 45,X\/46,XY and 1 was 45,X\/46,X+mar(idicY) karyotype. A significant correlation was found between karyotype groups and FSH values of the cases (p=0.034). In monosomy X and mosaic isochromosome Xq cases, the FSH value was found to be significantly higher than those with 45,X\/46,XX mosaic karyotype. CNVs were found in 8 (22.2%) out of 36 cases whose microarray study was performed. Unexpected atypical findings were discussed in the light of the characteristics of CNVs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0153_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mechanisms of those anomalies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0153","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T01:50:06Z","timestamp":1660269006000},"page":"1161-1168","source":"Crossref","is-referenced-by-count":1,"title":["Association between clinical variations and copy number variations in cases with Turner syndrome"],"prefix":"10.1515","volume":"35","author":[{"given":"Ezgi","family":"Aksoy","sequence":"first","affiliation":[{"name":"Department of Child Health and Diseases , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erhan","family":"Pariltay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samim","family":"Ozen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysun","family":"Ata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emin","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukran","family":"Darcan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes , Faculty of Medicine, Ege University , Izmir , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"key":"2023033121130453429_j_jpem-2022-0153_ref_001","doi-asserted-by":"crossref","unstructured":"Wolff, DJ, Van Dyke, DL, Powell, CM. Laboratory guideline for Turner syndrome. Genet Med [Internet] 2010;12:52\u20135. https:\/\/doi.org\/10.1097\/gim.0b013e3181c684b2.","DOI":"10.1097\/GIM.0b013e3181c684b2"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_002","doi-asserted-by":"crossref","unstructured":"Nussbaum, RL, McInnes, RR, Willard, HF, Thompson, MW, Hamosh, A. Thompson & Thompson genetics in medicine, 7th ed. Philadelphia: Saunders\/Elsevier; 2007:585 p.","DOI":"10.1016\/B978-1-4160-3080-5.50020-1"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_003","doi-asserted-by":"crossref","unstructured":"G\u00fcrsoy, S, Er\u00e7al, D. Turner syndrome and its variants. J Pediatr Res [Internet] 2017;4:171\u20135. https:\/\/doi.org\/10.4274\/jpr.35744.","DOI":"10.4274\/jpr.35744"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_004","doi-asserted-by":"crossref","unstructured":"Sybert, VP, McCauley, E. Turner\u2019s syndrome. N Engl J Med [Internet] 2004;351:1227\u201338. https:\/\/doi.org\/10.1056\/nejmra030360.","DOI":"10.1056\/NEJMra030360"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_005","doi-asserted-by":"crossref","unstructured":"Van Dyke, DL, Wiktor, A, Paliner, CG, Miller, DA, Witt, M, Babu, VR, et al.. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Am J Med Genet [Internet] 1992;43:996\u20131005. https:\/\/doi.org\/10.1002\/ajmg.1320430617.","DOI":"10.1002\/ajmg.1320430617"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_006","unstructured":"Migeon, BR, Luo, S, Jani, M, Jeppesen, P. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet 1994;55:497\u2013504."},{"key":"2023033121130453429_j_jpem-2022-0153_ref_007","doi-asserted-by":"crossref","unstructured":"dos Santos, AP, Ribeiro Andrade, JG, Piveta, CSC, de Paulo, J, Guerra-Junior, G, de Mello, MP, et al.. Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X\/46, XY karyotype or its variants. BMC Med Genet [Internet] 2013;14:115. https:\/\/doi.org\/10.1186\/1471-2350-14-115.","DOI":"10.1186\/1471-2350-14-115"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_008","doi-asserted-by":"crossref","unstructured":"Toniolo, D, Rizzolio, F. X chromosome and ovarian failure. Semin Reprod Med [Internet] 2007;25:264\u201371. https:\/\/doi.org\/10.1055\/s-2007-980220.","DOI":"10.1055\/s-2007-980220"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_009","doi-asserted-by":"crossref","unstructured":"Corbitt, H, Gutierrez, J, Silberbach, M, Maslen, CL. The genetic basis of Turner syndrome aortopathy. Am J Med Genet C Semin Med Genet [Internet] 2019;181:101\u20139. https:\/\/doi.org\/10.1002\/ajmg.c.31686.","DOI":"10.1002\/ajmg.c.31686"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_010","doi-asserted-by":"crossref","unstructured":"Neyzi, O, Bundak, R, G\u00f6k\u00e7ay, G, G\u00fcn\u00f6z, H, Furman, A, Darendeliler, F, et al.. Reference values for weight, height, head circumference, and body mass index in Turkish children. J Clin Res Pediatr Endocrinol [Internet] 2015;7:280\u201393. https:\/\/doi.org\/10.4274\/jcrpe.2183.","DOI":"10.4274\/jcrpe.2183"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_011","doi-asserted-by":"crossref","unstructured":"Demir, K, Konak\u00e7\u0131, E, \u00d6zkaya, G, Kasap Demir, B, \u00d6zen, S, Ayd\u0131n, M, et al.. New features for child metrics: further growth references and blood pressure calculations. J Clin Res Pediatr Endocrinol [Internet] 2020;12:125\u20139. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2019.2019.0127.","DOI":"10.4274\/jcrpe.galenos.2019.2019.0127"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_012","doi-asserted-by":"crossref","unstructured":"Wisniewski, A, Milde, K, Stupnicki, R, Szufladowicz-Wozniak, J. Weight deficit at birth and Turner\u2019s syndrome. J Pediatr Endocrinol Metab [Internet] 2007;20:607\u201313. https:\/\/doi.org\/10.1515\/jpem.2007.20.5.607.","DOI":"10.1515\/JPEM.2007.20.5.607"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_013","doi-asserted-by":"crossref","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 [Internet] 2019;91:373\u20139. https:\/\/doi.org\/10.1159\/000500780.","DOI":"10.1159\/000500780"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_014","doi-asserted-by":"crossref","unstructured":"Parissone, F, Pucci, M, Meneghelli, E, Zuffardi, O, Di Paola, R, Zaffagnini, S, et al.. A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve\u00a0\u2013 effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review. Int J Pediatr Endocrinol [Internet] 2020;2020:1. https:\/\/doi.org\/10.1186\/s13633-019-0071-z.","DOI":"10.1186\/s13633-019-0071-z"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_015","doi-asserted-by":"crossref","unstructured":"Schmidel, DK, Tatro, AV, Phelps, LG, Tomczak, JA, Long, GL. Organization of the human protein S genes. Biochemistry [Internet] 1990;29:7845\u201352. https:\/\/doi.org\/10.1021\/bi00486a010.","DOI":"10.1021\/bi00486a010"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_016","doi-asserted-by":"crossref","unstructured":"Humbert, MC, Weihbrecht, K, Searby, CC, Li, Y, Pope, RM, Sheffield, VC, et al.. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci [Internet] 2012;109:19691\u20136. https:\/\/doi.org\/10.1073\/pnas.1210916109.","DOI":"10.1073\/pnas.1210916109"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_017","doi-asserted-by":"crossref","unstructured":"Cantagrel, V, Silhavy, JL, Bielas, SL, Swistun, D, Marsh, SE, Bertrand, JY, et al.. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet [Internet] 2008;83:170\u20139. https:\/\/doi.org\/10.1016\/j.ajhg.2008.06.023.","DOI":"10.1016\/j.ajhg.2008.06.023"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_018","doi-asserted-by":"crossref","unstructured":"Thomas, S, Cantagrel, V, Mariani, L, Serre, V, Lee, JE, Elkhartoufi, N, et al.. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet [Internet] 2015;23:621\u20137. https:\/\/doi.org\/10.1038\/ejhg.2014.156.","DOI":"10.1038\/ejhg.2014.156"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_019","doi-asserted-by":"crossref","unstructured":"Therman, E, Denniston, C, Sarto, GE, Ulber, M. X chromosome constitution and the human female phenotype. Hum Genet [Internet] 1980;54:133\u201343. https:\/\/doi.org\/10.1007\/bf00278961.","DOI":"10.1007\/BF00278961"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_020","doi-asserted-by":"crossref","unstructured":"Lee, K, Chiu, I, Santos-Cortez, R, Basit, S, Khan, S, Azeem, Z, et al..\u00a0Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families:\u00a0Letter to the Editor. Clin Genet [Internet] 2013;84:294\u20136. https:\/\/doi.org\/10.1111\/cge.12047.","DOI":"10.1111\/cge.12047"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_021","doi-asserted-by":"crossref","unstructured":"Bondy, C, Bakalov, VK, Cheng, C, Olivieri, L, Rosing, DR, Arai, AE. Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome. J Med Genet [Internet] 2013;50:662\u20135. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101720.","DOI":"10.1136\/jmedgenet-2013-101720"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_022","doi-asserted-by":"crossref","unstructured":"Ozturk, AK, Nahed, BV, Bydon, M, Bilguvar, K, Goksu, E, Bademci, G, et al.. Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke [Internet] 2006;37:1021\u20137. https:\/\/doi.org\/10.1161\/01.str.0000206153.92675.b9.","DOI":"10.1161\/01.STR.0000206153.92675.b9"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_023","doi-asserted-by":"crossref","unstructured":"Stagi, S, Losi, S, Chiarelli, F, de Martino, M, Falcini, F. Kawasaki disease in a girl with turner syndrome: a remarkable association. Ital J Pediatr [Internet] 2014;40:24. https:\/\/doi.org\/10.1186\/1824-7288-40-24.","DOI":"10.1186\/1824-7288-40-24"},{"key":"2023033121130453429_j_jpem-2022-0153_ref_024","doi-asserted-by":"crossref","unstructured":"Yang, X, Chen, MW, Terry, S, Vacherot, F, Chopin, DK, Bemis, DL, et al.. A human- and male-specific protocadherin that acts through the wnt signaling pathway to induce neuroendocrine transdifferentiation of prostate cancer cells. Cancer Res [Internet] 2005;65:5263\u201371. https:\/\/doi.org\/10.1158\/0008-5472.can-05-0162.","DOI":"10.1158\/0008-5472.CAN-05-0162"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0153\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0153\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T10:51:13Z","timestamp":1680346273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0153\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,12]]},"references-count":24,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,8,30]]},"published-print":{"date-parts":[[2022,9,27]]}},"alternative-id":["10.1515\/jpem-2022-0153"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0153","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,8,12]]}}}