{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T04:17:36Z","timestamp":1773289056260,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.<\/jats:p>","DOI":"10.1002\/ajmg.1320030404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:57:50Z","timestamp":1118498270000},"page":"331-339","source":"Crossref","is-referenced-by-count":40,"title":["Trisomy 14 mosaicism: Case report and review"],"prefix":"10.1002","volume":"3","author":[{"given":"Virginia Pineda","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Thomas","family":"Aceto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clark","family":"Likness","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Hoehn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00326943"},{"key":"e_1_2_1_3_1","first-page":"41","article-title":"Partial trisomy 14q and familial translocation (2;14) (q12;q13)","volume":"20","author":"Coco R","year":"1977","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_4_1","volume-title":"New Chromosomal and Malformation Syndromes","author":"Fawcett WA","year":"1975"},{"issue":"5","key":"e_1_2_1_4_2","first-page":"223","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281111"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293780"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/255243a0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.2910210608"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00702364"},{"key":"e_1_2_1_10_1","first-page":"281","article-title":"Translocation t(14q\u2013;21q+) chez le pere. Trisomie 14 et monosomie 21 parteilles chez la fille","volume":"16","author":"Laurent C","year":"1973","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.3.214"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.6.2071"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01936.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295788"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284860"},{"key":"e_1_2_1_16_1","first-page":"35","article-title":"Trisomie 14q partielle I. Trisomie 14q partielle par translocation paternelle t(10;14) (p15.2;q22)","volume":"18","author":"Raoul O","year":"1975","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.280"},{"key":"e_1_2_1_18_1","first-page":"71","article-title":"Trisomic 14 en mosalique chez une enfant multimalform\u00e9e","volume":"18","author":"Rhetor\u00e9 MO","year":"1975","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.367"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.124"},{"key":"e_1_2_1_21_1","first-page":"251","volume-title":"Chromosome Identification","author":"Therkelsen AJ","year":"1973"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010208"},{"key":"e_1_2_1_23_1","first-page":"41","article-title":"Trisomie 14q partielle II. Trisomie 14q partielle par translocation maternelle t(12;14) (q24.4;q21)","volume":"18","author":"Turleau C","year":"1975","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_24_1","volume-title":"Cytogenetics, Environment and Malformation Syndromes","author":"Yeatman GW","year":"1976"},{"issue":"5","key":"e_1_2_1_24_2","first-page":"119","journal-title":"BD:OAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320030404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320030404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:36:40Z","timestamp":1699832200000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320030404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320030404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320030404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}