{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T22:10:10Z","timestamp":1700172610126},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T00:00:00Z","timestamp":1086825600000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the prenatal diagnosis case of pure trisomy 1q21\u2010qter with translocation to chromosome Y in all cells analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>Amniocentesis for chromosomal analysis was performed at 15 gestational weeks because it showed a fetal nuchal thickness by ultrasound examination. GTG banding and FISH analysis were carried out.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In spite of the unfavourable fetal prognosis, the couple decided to continue the gestation. Ultrasonographic controls performed between the 20th and 34th weeks showed a male fetus with multiple abnormalities. The propositus was born at 35 weeks' gestation, surviving 40 min.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our patient's clinical anomalies were compared with two cases of trisomy 1q in all cells and five mosaicisms with the object of defining this syndrome, which we consider important for future genetic counselling. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.847","type":"journal-article","created":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T15:00:50Z","timestamp":1086879650000},"page":"414-417","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal diagnosis of <b><i>de novo<\/i><\/b> trisomy 1(q21\u2010qter)der(Y)t(Y;1) in a malformed live born"],"prefix":"10.1002","volume":"24","author":[{"given":"M. C.","family":"Fern\u00e1ndez\u2010Novoa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. R.","family":"Granell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Carreto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,10]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"240","article-title":"Double autosomal trisomy (1q21.2\u2010> qter and 14pter\u2010> q13) in a female fetus with nuchal oedema","volume":"30","author":"Fryns JP","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.64"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360203"},{"key":"e_1_2_1_5_1","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420460410"},{"key":"e_1_2_1_7_1","first-page":"16","article-title":"Vascular steal: a proposed mechanism for certain skeletal, visceral, and soft tissue malformations","volume":"4","author":"Stevenson RE","year":"1985","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_8_1","first-page":"106","article-title":"Early urethral obstruction sequence and trisomy of the long arm of chromosome 1","volume":"38","author":"Van Buggenhout G","year":"1995","journal-title":"Ann Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-199011000-00056"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(99)00141-7"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.847","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.847","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:42:28Z","timestamp":1700170948000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1002\/pd.847"],"URL":"https:\/\/doi.org\/10.1002\/pd.847","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6]]}}}