{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:57Z","timestamp":1760906937804,"version":"3.40.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>The authors report the first case of a complete trisomy 12 detected antenatally at 16 weeks of gestation. The ultrasonographic features (craniofacial abnormalities) correlated well with postmortem findings. The absence of the hypophysis gland, olfactory pathways and both adrenal glands, as well as developmental anomalies of the central nervous system, were additional findings at autopsy. The recognition of complete trisomy 12 phenotype can be helpful in the pre- and postnatal diagnosis of future similar cases and parental counseling.<\/jats:p>","DOI":"10.1159\/000222666","type":"journal-article","created":{"date-parts":[[2009,6,2]],"date-time":"2009-06-02T12:42:59Z","timestamp":1243946579000},"page":"234-238","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic Expression in the First Case of Complete Trisomy 12: Combination of Prenatal Ultrasound and Necropsic Examination"],"prefix":"10.1159","volume":"25","author":[{"given":"Ana Paula","family":"Machado","sequence":"first","affiliation":[]},{"given":"Carla","family":"Ramalho","sequence":"additional","affiliation":[]},{"given":"Teresa","family":"Loureiro","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Cunha","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"D\u00f3ria","sequence":"additional","affiliation":[]},{"given":"Filipa","family":"Carvalho","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o Paulo","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Ot\u00edlia","family":"Brand\u00e3o","sequence":"additional","affiliation":[]},{"given":"Alexandra","family":"Matias","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2009,6,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199709%2917%3A9%3C801%3A%3AAID-PD153%3E3.0.CO%3B2-E"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2F1096-8628%2820001218%2995%3A5%3C444%3A%3AAID-AJMG7%3E3.0.CO%3B2-X"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199703%2917%3A3%3C201%3A%3AAID-PD56%3E3.0.CO%3B2-H"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2873%2980165-9"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30125"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31143"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cancergencyto.2006.02.001"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291098-2264%28199905%2925%3A1%3C26%3A%3AAID-GCC4%3E3.0.CO%3B2-Z"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.20321"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C243%3A%3AAID-AJMG42%3E3.0.CO%3B2-L"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0004.2000.570513.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.28.2.122"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0378-1119%2800%2900466-2"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2F0029-7844%2895%2900155-K"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.1567"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/222666","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/222666","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T22:59:55Z","timestamp":1745449195000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000222666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2009,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000222666","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2009]]}}}