{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:16:50Z","timestamp":1783970210035,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2013,5]]},"abstract":"Abstract<\/jats:title>Aim<\/jats:title>Chromosomal abnormalities are implicated in the etiology of primary amenorrhea. The underlying chromosomal aberrations are varied and regional differences have been reported. The objective of this study is to describe the prevalence of various types of chromosomal abnormalities in S<\/jats:styled-content>ri L<\/jats:styled-content>ankan women with primary amenorrhea.<\/jats:p><\/jats:sec>Material and Methods<\/jats:title>Medical records of all patients diagnosed with primary amenorrhea referred for cytogenetic analysis to two genetic centers in S<\/jats:styled-content>ri L<\/jats:styled-content>anka from J<\/jats:styled-content>anuary 2005 to D<\/jats:styled-content>ecember 2011 were reviewed. Chromosome culture and karyotyping was performed on peripheral blood samples obtained from each patient. Data were analyzed using standard descriptive statistics.<\/jats:p><\/jats:sec>Results<\/jats:title>Altogether 338 patients with primary amenorrhea were karyotyped and mean age at testing was 20.5 years. Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45,X T<\/jats:styled-content>urner syndrome (10.7%), T<\/jats:styled-content>urner syndrome variants (13.9%), XY<\/jats:styled-content> females (6.5%), 45,X<\/jats:styled-content>\/46,XY<\/jats:styled-content> (0.9%), 46,XX<\/jats:styled-content>\/46,XY<\/jats:styled-content> (0.6%), 47,XXX<\/jats:styled-content> (0.3%), 47,XX<\/jats:styled-content>,+ mar (0.3%), 46,X<\/jats:styled-content>,i(X<\/jats:styled-content>)(p10) (0.3%), 46,XX<\/jats:styled-content> with SRY<\/jats:styled-content><\/jats:italic> gene translocation on X<\/jats:styled-content> chromosome (0.3%) and 46,XX<\/jats:styled-content>,inv(7)(p10;q11.2) (0.3%). Short stature, absent secondary sexual characteristics, neck webbing, cubitus valgus and broad chest with widely spaced nipples were commonly seen in patients with T<\/jats:styled-content>urner syndrome and variant forms. Neck webbing and absent secondary sexual characteristics were significantly associated with classical T<\/jats:styled-content>urner syndrome than variant forms.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>A considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1447-0756.2012.02063.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T05:19:49Z","timestamp":1356153589000},"page":"991-997","source":"Crossref","is-referenced-by-count":5,"title":["Prevalence of chromosomal abnormalities in S<\/scp>ri L<\/scp>ankan women with primary amenorrhea"],"prefix":"10.1111","volume":"39","author":[{"given":"Lasitha","family":"Samarakoon","sequence":"first","affiliation":[{"name":"Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmala D.","family":"Sirisena","sequence":"additional","affiliation":[{"name":"Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalum T.","family":"Wettasinghe","sequence":"additional","affiliation":[{"name":"Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kariyawasam Warnakulathanthrige Jayani C.","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"Asiri Center for Genomic and Regenerative Medicine Asiri Surgical Hospital Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan W.","family":"Jayasekara","sequence":"additional","affiliation":[{"name":"Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vajira H. W.","family":"Dissanayake","sequence":"additional","affiliation":[{"name":"Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka"},{"name":"Asiri Center for Genomic and Regenerative Medicine Asiri Surgical Hospital Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,21]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"267","article-title":"Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: Retrospective study","volume":"11","author":"Wong MS","year":"2005","journal-title":"Hong Kong Med J"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1472-6483(10)60374-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-1208.82362"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/09723757.2010.11886086"},{"key":"e_1_2_6_6_1","first-page":"355","article-title":"Cytogenetic studies in women with primary amenorrhea","volume":"31","author":"Ten S","year":"1990","journal-title":"Singapore Med J"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/09723757.2010.11886087"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)06297-1"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0926"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmi012"},{"key":"e_1_2_6_11_1","first-page":"619","article-title":"Primary amenorrhoea: A retrospective study at Siriraj Hospital","volume":"80","author":"Rattanachaiyanont M","year":"1997","journal-title":"J Med Assoc Thai"},{"key":"e_1_2_6_12_1","first-page":"355","article-title":"Cytogenetic studies in women with primary amenorrhea","volume":"31","author":"Ten S","year":"1990","journal-title":"Singapore Med J"},{"key":"e_1_2_6_13_1","first-page":"155","article-title":"Study of primary amenorrhoea with special reference to cytogenetic evaluation","volume":"45","author":"Mondal SK","year":"2002","journal-title":"Indian J Pathol Microbiol"},{"key":"e_1_2_6_14_1","first-page":"267","article-title":"Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: Retrospective study","volume":"11","author":"Wong M","year":"2005","journal-title":"Hong Kong Med J"},{"key":"e_1_2_6_15_1","first-page":"291","article-title":"Cytogenetic study of primary amenorrhoea","volume":"93","author":"Roy A","year":"1995","journal-title":"J Indian Med Assoc"},{"key":"e_1_2_6_16_1","first-page":"46","article-title":"Primary amenorrhoea \u2013 analysis of 44 cases","volume":"23","author":"Quorrata EF","year":"2008","journal-title":"Bangladesh J Obstet Gynaecol"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1447-0756.2012.02063.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1447-0756.2012.02063.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T04:13:01Z","timestamp":1697343181000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/j.1447-0756.2012.02063.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,21]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/j.1447-0756.2012.02063.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1447-0756.2012.02063.x","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,21]]}}}