{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:27Z","timestamp":1761717927429},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,6,11]],"date-time":"2004-06-11T00:00:00Z","timestamp":1086912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype\/phenotype\u2010correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting (WCP), comparative genomic hybridization (CGH), multicolor\u2010banding (MCB) detected a female karyotype with an abberant chromosome 12:46,XX,der(12).ish dup(12)(pter\u2009\u2192\u2009q24.3::p11.2\u2009\u2192\u2009pter). In addition to the trisomy 12p specific clinical hallmarks, the patient showed some features of Pallister\u2013Killian syndrome (PKS) such as sparse hair, macroglossia, and epilepsy. These findings contribute to the genotype\/phenotype correlation in trisomy 12p patients. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30125","type":"journal-article","created":{"date-parts":[[2004,6,11]],"date-time":"2004-06-11T23:03:01Z","timestamp":1086994981000},"page":"261-264","source":"Crossref","is-referenced-by-count":26,"title":["Genotype\/phenotype analysis in a patient with pure and complete trisomy 12p"],"prefix":"10.1002","volume":"129A","author":[{"given":"Walter","family":"Zumkeller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Volleth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Muschke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"T\u00f6nnies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Heller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Wieacker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Stumm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,8,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","unstructured":"BielanskaMM KhalifaMM DuncanAMW.1996.Pallister\u2013Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.65:104\u2013108.","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015245"},{"key":"e_1_2_6_5_1","first-page":"335","article-title":"Microdissection based high resolution multicolor banding for all 24 human chromosomes","volume":"9","author":"Liehr T","year":"2002","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_6_1","first-page":"41","article-title":"Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2\u2010p13.3","volume":"35","author":"Pfeiffer RA","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_6_7_1","first-page":"52","article-title":"Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus","volume":"41","author":"Plaja A","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L"},{"key":"e_1_2_6_9_1","first-page":"235","article-title":"A case of de novo trisomy 12p syndrome","volume":"28","author":"Ray M","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_6_10_1","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442992"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10025"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90147-K"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000056983"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80165-9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30125","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:36:00Z","timestamp":1697646960000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8,18]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["10.1002\/ajmg.a.30125"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30125","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,8,18]]}}}