{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T01:51:43Z","timestamp":1770429103073,"version":"3.49.0"},"reference-count":27,"publisher":"Wiley","issue":"2","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>Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down turned corners of the mouth, highly arched or cleft palate, micrognathia, malformed auricles, short, webbed neck, clinodactly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizably entity.<\/jats:p>","DOI":"10.1002\/ajmg.1320100210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:39:07Z","timestamp":1118511547000},"page":"159-177","source":"Crossref","is-referenced-by-count":72,"title":["The dup(3q) syndrome: Report of eight cases and review of the literature"],"prefix":"10.1002","volume":"10","author":[{"given":"P.","family":"Steinbach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"W. N.","family":"Adkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Caspar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. W.","family":"Dumars","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Gebauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. F.","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Grimm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Habedank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Hansmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. G.","family":"Kaveggia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Langenbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. F.","family":"Meisner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. M.","family":"Najafzadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. G.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. H.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. S.","family":"Tavares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Wiedeking","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_1","first-page":"699","article-title":"Chromosome 3 duplication q21\u2192qter deletion p25\u2192pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21)","volume":"27","author":"Allderdice PW","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"567","article-title":"Aneusomies de recombinaison. Cons\u00e9quences d'une inversion p\u00e9ricentrique d'un chromosome 3 paternel","volume":"21","author":"Bou\u00e9 J","year":"1974","journal-title":"Ann P\u00e9diat"},{"key":"e_1_2_1_4_1","first-page":"28A","article-title":"Distal 3q trisomy in an abnormal child","volume":"29","author":"Centerwall WR","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.525"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1542\/peds.37.1.92","article-title":"Familial deLange syndrome with chromosome abnormalities","volume":"37","author":"Falek A","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.54.2.135"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1542\/peds.61.4.611","article-title":"Chromosome 3 duplication q\/deletion p syndrome","volume":"61","author":"Fineman RM","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_1","series-title":"Birth Defects Original Article Series","first-page":"191","volume-title":"Clinical syndromes associated with partial duplications of chromosomes 2 and 3:dup(2p), dup(2q), dup(3p), dup(3q)","author":"Francke U","year":"1978"},{"key":"e_1_2_1_10_1","first-page":"161","article-title":"Chromosome 3q duplication and the Brachmann\u2010 deLange syndrome (BDLS)","volume":"95","author":"Francke U","year":"1979","journal-title":"Letter to the editor: J Pediatr"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272194"},{"key":"e_1_2_1_12_1","first-page":"119","article-title":"D\u00e9l\u00e9tion partielle du bras court du chromosome 3. A propos d'une cas","volume":"23","author":"Gonzales J","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295801"},{"key":"e_1_2_1_14_1","first-page":"340","article-title":"The partial trisomy 3q syndrome","volume":"11","author":"Herrmann J","year":"1975","journal-title":"BD: OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00601.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291914"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292912"},{"key":"e_1_2_1_18_1","first-page":"217","article-title":"Trisomy 3q: Two clinically similar but cytogenetically different cases","volume":"22","author":"Mulcahy MT","year":"1979","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_19_1","first-page":"1028","article-title":"Familial deLange syndrome with chromosome abnormalities. Letter to the editor","volume":"37","author":"Opitz JM","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_1_20_1","first-page":"89A","article-title":"Duplication\u2010deletion of chromosome 3 syndrome","volume":"30","author":"Patil S","year":"1978","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1979.02130100030005"},{"key":"e_1_2_1_22_1","first-page":"141","article-title":"Translocation familiale 3\/22 mat avec trisomie partielle 3q","volume":"25","author":"Schwanitz G","year":"1977","journal-title":"J G\u00e9n\u00e9t hum"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1979.02130070063013"},{"key":"e_1_2_1_24_1","first-page":"173","article-title":"Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus","volume":"26","author":"Sod R","year":"1978","journal-title":"J G\u00e9n\u00e9t hum"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442348"},{"key":"e_1_2_1_26_1","first-page":"172","article-title":"Familial 2\/3 translocation","volume":"18","author":"Summit RL","year":"1966","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81077-4"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272831"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320100210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320100210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T03:36:47Z","timestamp":1699846607000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320100210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1981,1]]}},"alternative-id":["10.1002\/ajmg.1320100210"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320100210","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]]}}}