{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:27:24Z","timestamp":1792146444761,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,11,26]],"date-time":"2012-11-26T00:00:00Z","timestamp":1353888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>A 29\u2010year\u2010old primigravida developed polyhydramnios at 24\u2003weeks of gestation, requiring six serial amnioreductions. In addition, prenatal ultrasound examinations revealed a fetus with small stomach pouch, small thorax, slightly shortened limbs, and skin edema; paternal uniparental disomy 14(upd(14)pat) phenotype was suspected. At 37\u2003weeks, the patient delivered a 2558\u2003g female infant with characteristic facial features, webbed neck, thoracic deformity, abdominal wall defect, skin edema, overlapping fingers, placentomegaly, and small thorax with \u2018coat\u2010hanger\u2019 appearance of the ribs on chest X\u2010ray. A phenotype consistent with upd(14)pat was confirmed by DNA analysis. Although the infant's condition was initially stable, hepatoblastoma was subsequently detected and right hepatectomy was performed on day 224. On day 382, the infant was discharged with in\u2010home respiratory management.<\/jats:p>","DOI":"10.1111\/j.1741-4520.2012.00364.x","type":"journal-article","created":{"date-parts":[[2012,2,21]],"date-time":"2012-02-21T16:44:06Z","timestamp":1329842646000},"page":"219-220","source":"Crossref","is-referenced-by-count":9,"title":["Hepatoblastoma in an infant with paternal uniparental disomy 14"],"prefix":"10.1111","volume":"52","author":[{"given":"Mariko","family":"Horii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Horiuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikio","family":"Momoeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Machiko","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Kusakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Yamanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,26]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"5041","article-title":"Loss of maternal alleles on chromosome arm 11p in hepatoblastoma","volume":"54","author":"Albrecht S","year":"1994","journal-title":"Cancer Res"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1453"},{"key":"e_1_2_5_4_1","first-page":"4781","article-title":"Maintenance of genomic imprinting at the IGF2 locus in hepatoblastoma","volume":"53","author":"Davies SM","year":"1993","journal-title":"Cancer Res"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6604754"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2008.06.001"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30483"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00183998"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31896"},{"key":"e_1_2_5_12_1","first-page":"1836","article-title":"Loss of imprinting in hepatoblastoma","volume":"55","author":"Rainier S","year":"1995","journal-title":"Cancer Res"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33719"},{"key":"e_1_2_5_14_1","first-page":"54","article-title":"[Prenatal diagnosis of Paternal Uniparental Disomy for Chromosome 14]","volume":"47","author":"Ueda H","year":"2011","journal-title":"Nihon Shusanki Shinseiji Igakkai Zasshi"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0748-7983(05)80083-6"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33247"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1741-4520.2012.00364.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1741-4520.2012.00364.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T15:15:48Z","timestamp":1697382948000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2012.00364.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,26]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1741-4520.2012.00364.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1741-4520.2012.00364.x","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,26]]}}}