{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970133},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4477,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied an infant with multiple anomalies and a 46,XY,12p+ karyotype. Parental chromosomes were normal, and it was not possible to determine the identity of the extra material on chromosome 12 cytogenetically. Chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics established the duplication as 9q34\u2192qter. Comparison of this patient with others reported with partial dup(9q) documented excellent concordance of minor anomalies, most notably dolichocephaly, \u201c;deep\u2010set\u201d; eyes, short horizontal palpebral fissures, beaked nose, micrognathia, arachnodactyly, and developmental delay. Identification of cytogenetically indeterminate abnormalities by molecular cytogenetics is very important, as it permits prognosis to be offered for families of newborn infants with unbalanced karyo\u2010types. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450519","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"609-613","source":"Crossref","is-referenced-by-count":21,"title":["Duplication 9q34\u2192qter identified by chromosome painting"],"prefix":"10.1002","volume":"45","author":[{"given":"Nancy B.","family":"Spinner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe N.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn","family":"Poggensee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Jacquette","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"848","article-title":"Partial trisomy 9q due to maternal 9\/17 translocation","volume":"134","author":"Aftimos SF","year":"1980","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_3_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_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.577"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90025-A"},{"key":"e_1_2_1_6_1","first-page":"373","volume-title":"Medical Basis for Radiation Accident Preparedness II","author":"Fry SA","year":"1990"},{"key":"e_1_2_1_7_1","first-page":"347","article-title":"Distal 9q trisomy syndrome: report of the first oriental case and literature review","volume":"23","author":"Houdou S","year":"1987","journal-title":"Acta Neonatal Jpn"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-1759(81)90183-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180204"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220412"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790090"},{"key":"e_1_2_1_12_1","first-page":"149","volume-title":"Proceedings of the 27th Hanford Life Sciences Symposium on Health and the Environment","author":"Lucas JN","year":"1988"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/09553009214551821"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02947.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.7.434"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02015.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278883"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02824.x"},{"key":"e_1_2_1_20_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.1320450519","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450519","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:22:12Z","timestamp":1698308532000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1002\/ajmg.1320450519"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450519","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}