{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T04:32:12Z","timestamp":1775277132153,"version":"3.50.1"},"reference-count":16,"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":8918,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1981,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21\u2192pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include low birth weight, short stature, microcephaly, characteristic \u201csquare\u201d face with temporal indentations, hypertelorism and\/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down\u2010turned corners of the mouth. Cleft lip\/palate and eversion of the lips are common. The jaw is typically small and receding and the neck short. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. A predominance of whorls is present on the fingers. Nearly half of the cases died before 6 months. All affected children surviving beyond 1 year have been mentally retarded.<\/jats:p>","DOI":"10.1002\/ajmg.1320080408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:33:48Z","timestamp":1118514828000},"page":"431-436","source":"Crossref","is-referenced-by-count":15,"title":["Duplication 3p syndrome: Report of a new case and review of the literature"],"prefix":"10.1002","volume":"8","author":[{"given":"Joel","family":"Charrow","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimon M.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Meeker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196608112750602"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1969.tb04737.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.4.509"},{"key":"e_1_2_1_5_2","first-page":"159","article-title":"Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: ins(7;3) (q31;p21p26)","volume":"15","author":"Rethor\u00e9 M\u2010O","year":"1972","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_6_2","first-page":"287","article-title":"Trisomie partielle pour la partie distale du bras court du chromosome 3","volume":"17","author":"Ballesta F","year":"1974","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.303"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80262-4"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01300.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120260032004"},{"key":"e_1_2_1_11_2","first-page":"168","article-title":"Trisomy 3 (p23\u2010pter) resulting from maternal translocation, t(3;4) (p23;q35)","volume":"21","author":"Schinzel A","year":"1978","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00321015"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050105"},{"key":"e_1_2_1_14_2","unstructured":"CenterwallW MankinenC MarshW GibletE:The 3p trisomy syndrome: De Novo case identified via banded prometaphase chromosomes. Proceedings 1980 Birth Defects Conference New York City June 8\u201311 1980(abstract)."},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"},{"key":"e_1_2_1_17_2","first-page":"279","volume-title":"Human Cytogenetics","author":"Hamerton JL","year":"1971"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320080408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320080408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:41:01Z","timestamp":1699828861000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320080408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1981,1]]}},"alternative-id":["10.1002\/ajmg.1320080408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320080408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1]]}}}