{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:10:36Z","timestamp":1764493836763},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T00:00:00Z","timestamp":1428278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a 32\u2010year\u2010old woman who presented at gestational age of 14 weeks. During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low\u2010set ears, broad nose), heart defects (single atrium, single ventricle), agenesis of corpus callosum, limb defects (clenched hands, pes equinovarus). Chorionic villus sampling and karyotyping revealed diploid\/tetraploid mosaicism with trisomy 18 (mixoploidy; 4n+18\/2n+18). Her second pregnancy was terminated because of the same clinical manifestations 1 year prior. Her first pregnancy resulted in the birth of an entirely healthy boy. As far as know, no other similar case has been presented in the literature. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37062","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T14:28:03Z","timestamp":1428330483000},"page":"1650-1653","source":"Crossref","is-referenced-by-count":2,"title":["The unprecedented recurrent diploid\/tetraploid mosaicism of trisomy\u201018 (mixoploidy; 4n+18\/2n+18): Clinical report"],"prefix":"10.1002","volume":"167","author":[{"given":"Sibel","family":"Ozler","sequence":"first","affiliation":[{"name":"Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali O.","family":"Ersoy","sequence":"additional","affiliation":[{"name":"Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efser","family":"Oztas","sequence":"additional","affiliation":[{"name":"Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vehap","family":"Topcu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevki","family":"Celen","sequence":"additional","affiliation":[{"name":"Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuri","family":"Danisman","sequence":"additional","affiliation":[{"name":"Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(84)90043-8"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03452.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4679(198311)39:6<980::AID-JCLP2270390628>3.0.CO;2-A"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1889"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520314"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0959-437X(94)90071-X"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00512.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<39::AID-AJMG7>3.0.CO;2-L"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.159.3812.310"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.782"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016340009169255"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1292"},{"key":"e_1_2_5_14_1","first-page":"1015","article-title":"DNA polymorphism analysis in families with recurrence of free trisomy 21","volume":"51","author":"Pangalos CG","year":"1992","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(86)90150-0"},{"key":"e_1_2_5_16_1","first-page":"175","article-title":"Nuclear DNA\u2010content of myocardial cells of the Turkey","volume":"8","author":"Pfitzer P","year":"1971","journal-title":"Virchows Arch B Cell Pathol"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130813"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32000"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.1999.tb01180.x"},{"key":"e_1_2_5_20_1","first-page":"18","article-title":"Polyploidy in the human myometrium","volume":"89","author":"Van der Heijden FL","year":"1975","journal-title":"Z Mikrosk Anat Forsch"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01842.x"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03109.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37062","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:50:38Z","timestamp":1696607438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,6]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.37062"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37062","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,6]]}}}