{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T16:21:52Z","timestamp":1706545312051},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T00:00:00Z","timestamp":1423180800000},"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":[[2015,7]]},"abstract":"Abstract<\/jats:title>The phenotypes associated with paternal uniparental disomy for chromosome 14 (UPD<\/jats:styled-content>(14)pat) are clinically distinctive and caused by genetic alterations at the 14q32.2 imprinted region. Here we describe prenatal and neonatal findings in a case of epimutation associated with UPD<\/jats:styled-content>(14)pat\u2010like phenotype. A 25\u2010year\u2010old Japanese woman was referred to hospital at 32\u2009weeks of gestation for management of threatened premature delivery. Fetal ultrasound and magnetic resonance imaging showed a narrow thorax and polyhydramnios. At 35\u2009weeks of gestation, emergency cesarean section was performed and placentomegaly was identified. Physical examination of the neonate indicated a small narrow thorax, diastasis recti, and dysmorphic facial features that included hirsute forehead, broad flat nasal bridge, micrognathia, small ears, and a long protruding philtrum. Genetic analysis identified epimutation at the intergenic differentially methylated region (IG\u2010DMR<\/jats:styled-content>) and at MEG3<\/jats:italic><\/jats:styled-content>\u2010DMR<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/jog.12665","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T10:55:43Z","timestamp":1423220143000},"page":"1133-1136","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome"],"prefix":"10.1111","volume":"41","author":[{"given":"Takafumi","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hayato","family":"Go","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun","family":"Yasuda","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhisa","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiya","family":"Fujimori","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31896"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302916"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.26"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.004"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33247"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33719"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2008.06.001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000992"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33449"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1453"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.1.77"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjog.12665","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjog.12665","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.12665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T09:39:55Z","timestamp":1696498795000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.12665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,6]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/jog.12665"],"URL":"https:\/\/doi.org\/10.1111\/jog.12665","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,6]]}}}