{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T02:27:11Z","timestamp":1722220031230},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,1,27]],"date-time":"2012-01-27T00:00:00Z","timestamp":1327622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coexistence of XX\/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]\/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera. Birth Defects Research (Part A), 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdra.22867","type":"journal-article","created":{"date-parts":[[2012,1,27]],"date-time":"2012-01-27T06:47:36Z","timestamp":1327646856000},"page":"245-248","source":"Crossref","is-referenced-by-count":3,"title":["Rare case of XX\/XY mosaicism and trisomy 13 in early prenatal diagnosis"],"prefix":"10.1002","volume":"94","author":[{"given":"Stavros","family":"Sifakis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Anagnostopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantina","family":"Plastira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolaos","family":"Vrachnis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia","family":"Konstantinidou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evangelia","family":"Sklavounou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,27]]},"reference":[{"key":"e_1_2_4_2_1","unstructured":"Association for Clinical Cytogenetics Professional Guidelines for Clinical Cytogeneticists.2007. General Best Practice Guidelines 2007. Version 1.04.http:\/\/www.cytogenetics.org.uk\/prof_standards\/acc_general_bp_mar2007_1.04.pdf."},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080606"},{"key":"e_1_2_4_4_1","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook EB","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-6646(09)60165-0"},{"key":"e_1_2_4_6_1","volume-title":"Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment","author":"Lillian YF","year":"1998"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572006000100006"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del480"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06183-9"},{"key":"e_1_2_4_10_1","first-page":"21","volume-title":"Chromosomal abnormalities and genetic counseling. Ch. 2. Origins and consequences of chromosome pathology. 3e","author":"McKinlay Gardner RJ","year":"2004"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.124321"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10055"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.177"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.22867","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.22867","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:54:30Z","timestamp":1700571270000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.22867"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,27]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1002\/bdra.22867"],"URL":"https:\/\/doi.org\/10.1002\/bdra.22867","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,27]]}}}