{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:49:34Z","timestamp":1773733774716,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,8,30]],"date-time":"2006-08-30T00:00:00Z","timestamp":1156896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust NZ J Obst Gynaeco"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background:\u2002<\/jats:bold> The role of extremely skewed X\u2010chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting.<\/jats:p><jats:p><jats:bold>Aims:\u2002<\/jats:bold> We therefore investigated the XCI patterns in peripheral blood DNA obtained from 80 patients who had RSA and 160 age\u2010matched controls.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Pregnancy history, age, karyotype, and disease information was collected from all subjects. The methylation status of a highly polymorphic cytosine\u2010adenine\u2010guanine repeat in the androgen\u2010receptor (<jats:italic>AR<\/jats:italic>) gene was determined by use of methylation\u2010sensitive restriction enzyme <jats:italic>Hpa<\/jats:italic>II and polymerase chain reaction.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Skewed XCI (&gt;\u00a085% skewing) was observed in 13 of the 62 patients informative for the AR polymorphism (20.9%), and eight of the 124 informative controls (6.4%) (<jats:italic>P\u00a0=<\/jats:italic>\u00a00.0069; \u03c7<jats:sup>2<\/jats:sup> test). More importantly, extremely skewed XCI, defined as\u00a0&gt;\u00a090% inactivation of one allele, was present in 11 (17.7%) patients, and in only two controls (<jats:italic>P\u00a0=<\/jats:italic>\u00a00.0002; \u03c7<jats:sup>2<\/jats:sup> test).<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.<\/jats:p>","DOI":"10.1111\/j.1479-828x.2006.00622.x","type":"journal-article","created":{"date-parts":[[2006,8,30]],"date-time":"2006-08-30T14:01:45Z","timestamp":1156946505000},"page":"384-387","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Extremely skewed X\u2010chromosome inactivation patterns in women with recurrent spontaneous abortion"],"prefix":"10.1111","volume":"46","author":[{"given":"Sevgi","family":"BAGISLAR","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isik","family":"USTUNER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bora","family":"CENGIZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feride","family":"SOYLEMEZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cemaliye Boylu","family":"AKYERLI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"CEYLANER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulay","family":"CEYLANER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aynur","family":"ACAR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tayfun","family":"OZCELIK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,30]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198807283190401"},{"key":"e_1_2_6_3_2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/S0015-0282(16)58382-4","article-title":"Frequency of factors associated with habitual abortion in 197 couples","volume":"66","author":"Stephenson MD.","year":"1996","journal-title":"Fertil Steril"},{"key":"e_1_2_6_4_2","unstructured":"BranchDW.Management of recurrent early pregnancy loss. 2001; ACOG Practice Bulletin No. 24. Washington:American College of Obstetricians and Gynecologists."},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/513901"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000071568"},{"key":"e_1_2_6_8_2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1651-2227.2002.tb03120.x","article-title":"X\u2010chromosome inactivation and human genetic disease","volume":"91","author":"Lyon MF.","year":"2002","journal-title":"Acta Paediatr (Suppl.)"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.4.304"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/302352"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302441"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/302552"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(01)02845-X"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/346119"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(03)00345-4"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2004.19.2.258"},{"key":"e_1_2_6_17_2","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X\u2010chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.4.339"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.117670"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-353"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/423288"}],"container-title":["Australian and New Zealand Journal of Obstetrics and Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1479-828X.2006.00622.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1479-828X.2006.00622.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T02:46:27Z","timestamp":1697078787000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/j.1479-828X.2006.00622.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,30]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1111\/j.1479-828X.2006.00622.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1479-828x.2006.00622.x","archive":["Portico"],"relation":{},"ISSN":["0004-8666","1479-828X"],"issn-type":[{"value":"0004-8666","type":"print"},{"value":"1479-828X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,30]]},"assertion":[{"value":"2006-08-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}