{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:10:45Z","timestamp":1759731045224},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4495,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a boy with a direct tandem duplication of 9(q12\u2010q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the \u201ctrisomy 9q syndrome\u201d described by Turleau et al. [1975]. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450412","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:27:53Z","timestamp":1118507273000},"page":"456-459","source":"Crossref","is-referenced-by-count":13,"title":["Duplication of 9q12\u2010q33: A case report and implications for the dup(9q) syndrome"],"prefix":"10.1002","volume":"45","author":[{"given":"Heather J.","family":"Stalker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9gol\u00e8ne","family":"Aym\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Delneste","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Scarpelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vazken M.","family":"Der Kaloustian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1005","article-title":"Duplication 9q34 syndrome","volume":"35","author":"Allderdice PW","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00430345"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00527411"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.239"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.237"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80444-2"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274703"},{"key":"e_1_2_1_9_1","first-page":"45","article-title":"Trisomie 9p par t(2;9) (q36;q31) mat","volume":"20","author":"Moirot H","year":"1977","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.387"},{"key":"e_1_2_1_11_1","first-page":"151","article-title":"An infant with trisomy 9pter\u20109q22 resulting from 3: 1 segregation in a 46, XX t(1,9) (p36;q22) mother","volume":"22","author":"Neu RL","year":"1979","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_12_1","first-page":"163","article-title":"Partial trisomy 9 in the case of familial translocation 8\/9 mat","volume":"17","author":"Schwanitz G","year":"1974","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278883"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291495"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00297629"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:58:21Z","timestamp":1698296301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2,15]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,2,15]]}},"alternative-id":["10.1002\/ajmg.1320450412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450412","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2,15]]}}}