{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T04:04:13Z","timestamp":1780545853280,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6881,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient with the Killian\/Teschler\u2010Nicola\/Pallister mosaic syndrome in association with a cytogenetic abnormality. This patient is the first reported to have lymphocyte mosaicism for an isochromosome of 12p. All other patients with the Killian syndrome have had normal lymphocyte karyotypes, although mosaicism for a similar isochromosome of 12p has been reported in the fibroblasts of most patients with the Killian syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320240404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:06:12Z","timestamp":1118520372000},"page":"607-611","source":"Crossref","is-referenced-by-count":27,"title":["Chromosomal mosaicism in the Killian\/Teschler\u2010Nicola syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Leslie J.","family":"Raffel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mohandas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"issue":"3","key":"e_1_2_1_2_1","first-page":"2","article-title":"\u201cKillian Syndrome,\u201d Pallister Mosaic Syndrome, or mosaic tetrasomy 12P?\u2013An analysis","volume":"1","author":"Buyse ML","year":"1983","journal-title":"J Clin Dysmorph"},{"issue":"3","key":"e_1_2_1_3_1","first-page":"14","article-title":"Case Report 103: Teschler\u2010Nicola\/Killian Syndrome: A sporadic case in an 11\u2010year\u2010old male","volume":"1","author":"Hall B","year":"1983","journal-title":"J Clin Dysmorph"},{"issue":"3","key":"e_1_2_1_4_1","first-page":"20","article-title":"Case Report 105: Teschler\u2010Nicola\/Killian Syndrome: A case report","volume":"1","author":"Hersh J","year":"1983","journal-title":"J Clin Dysmorph"},{"issue":"1","key":"e_1_2_1_5_1","first-page":"6","article-title":"Case Report 72: Mental retardation, unusual facial appearance, abnormal hair","volume":"7","author":"Killian W","year":"1981","journal-title":"Synd Ident"},{"issue":"3","key":"e_1_2_1_6_1","first-page":"6","article-title":"Case Report 102: Abnormal hair, craniofacial dysmorphism, and severe mental retardation\u2013a new syndrome?","volume":"1","author":"Killian W","year":"1983","journal-title":"J Clin Dysmorph"},{"issue":"3","key":"e_1_2_1_7_1","first-page":"25","article-title":"Case Report 106: A case report of Teschler\u2010Nicola\/Killian Syndrome","volume":"1","author":"Lubinsky M","year":"1983","journal-title":"J Clin Dysmorph"},{"issue":"1","key":"e_1_2_1_8_1","first-page":"5","article-title":"Letter to the editor: \u201cKillian Syndrome\u201d and mosaic tetrasomy 12P","volume":"2","author":"Lubinsky M","year":"1984","journal-title":"J Clin Dysmorph"},{"issue":"3","key":"e_1_2_1_9_1","first-page":"18","article-title":"Case Report 104: Teschler\u2010Nicola\/Killian Syndrome","volume":"1","author":"Pagon R","year":"1983","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_10_1","volume-title":"Annual Review of Birth Defects, 1976. New Syndromes","author":"Pallister PD","year":"1977"},{"issue":"3","key":"e_1_2_1_10_2","first-page":"103","author":"The National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"issue":"1","key":"e_1_2_1_11_1","first-page":"6","article-title":"Letter to the editor: More on Teschler\u2010Nicola\/Killian syndrome","volume":"2","author":"Robinow M","year":"1984","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_12_1","first-page":"3","article-title":"Further clinical delineation of the syndrome of unusual facial appearance, abnormal hair, and mental retardation reported by Teschler\u2010Nicola and Killian","volume":"2","author":"Schroer RJ","year":"1983","journal-title":"Proc Greenwood Genet Cntr"},{"issue":"1","key":"e_1_2_1_13_1","first-page":"7","article-title":"Letter to the editor: Teschler\u2010Nicola\/Killian syndrome and mosaic tetrasomy 12P","volume":"2","author":"Vine DT","year":"1984","journal-title":"J Clin Dysmorph"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320240404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320240404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T17:39:37Z","timestamp":1697823577000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320240404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1002\/ajmg.1320240404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320240404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}