{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T22:56:29Z","timestamp":1771455389764,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4815,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We ascertained +i(12p) mosaicism during third trimester in a case of polyhydramnios and diaphragmatic hernia. Primary cultures of amniocytes had colonies with +i(12p), colonies without +i(12p), and mixed colonies with 46\/47, +i(12p). The likely explanation was instability and loss of i(12p) during somatic divisions of amniocytes. Fetal blood in third trimester retained +i(12p) in 13% of cells. A review of mosaicism in published cases indicates that factors influencing the presence of +i(12p) include tissue type and in vitro and in vivo age. In blood, amniocyte, and probably bone marrow cultures, +i(12p) is less stable than in fibroblast\u2010like cultures derived from skin and other tissues. Young cultures at early passage are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors. These rules will be important in determining appropriate tissues for diagnosis and interpretation of mosaicism in this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.1320420615","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:55:27Z","timestamp":1118537727000},"page":"820-824","source":"Crossref","is-referenced-by-count":50,"title":["Tissue specificity and stability of mosaicism in Pallister\u2013Killian +i(12p) syndrome: Relevance for prenatal diagnosis"],"prefix":"10.1002","volume":"42","author":[{"given":"Jean H.","family":"Priest","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean M.","family":"Rust","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul M.","family":"Fernhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110409"},{"key":"e_1_2_1_3_2","first-page":"2","article-title":"Killian syndrome,\u201d Pallister mosaic syndrome or mosaic tetrasomy 12p?\u2013 an analysis","volume":"1","author":"Buyse M","year":"1983","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090405"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00416.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00222.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01217.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270206"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050312"},{"issue":"3","key":"e_1_2_1_10_2","first-page":"103","article-title":"The Pallister mosaic syndrome","author":"Pallister PD","year":"1977","journal-title":"BD:OAS"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270207"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02832.x"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310417"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240404"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270204"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080202"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350417"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03314.x"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270205"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310416"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02860.x"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350416"},{"key":"e_1_2_1_23_2","first-page":"62","article-title":"Lethal presentation of mosaic tetrasomy 12p (Pallister\u2010Killian) syndrome","volume":"32","author":"Young ID","year":"1989","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291381"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420615","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T15:48:10Z","timestamp":1698076090000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1002\/ajmg.1320420615"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420615","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}