{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T22:58:30Z","timestamp":1782860310718,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4875,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a stillborn female infant with multiple internal and external anatomic abnormalities and mosaicism for isochromosome 12p. These abnormalities included webbed neck, low\u2010set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs, agenesis of pericardium, and Meckel's diverticulum. Karyotypic analysis on cord blood lymphocytes showed 10% mosaicism of 46, XX\/47, XX, + i(12p), and analysis of skin fibroblasts showed 50% mosaicism for the same karyotype. The parental karyotypes were normal. There are many reported cases describing the anomalies seen in isochromosome 12p. None of these cases, however, have displayed pericardial agenesis or aplasia cutis. The clinical and cytogenetic features of Pallister\u2010Killian syndrome are reviewed.<\/jats:p>","DOI":"10.1002\/ajmg.1320420313","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:16Z","timestamp":1118550796000},"page":"323-325","source":"Crossref","is-referenced-by-count":29,"title":["Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister\u2010Killian syndrome)"],"prefix":"10.1002","volume":"42","author":[{"given":"Maureen F.","family":"Zakowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Andrew","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.37.8.580"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00464392"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80605-5"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01217.x"},{"key":"e_1_2_1_7_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"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050312"},{"key":"e_1_2_1_9_1","first-page":"51","volume-title":"The Pericardium in Health and Disease","author":"Nasser WK","year":"1985"},{"issue":"3","key":"e_1_2_1_10_1","first-page":"103","article-title":"The Pallister mosaic syndrome","author":"Pallister PD","year":"1977","journal-title":"Birth Defects"},{"key":"e_1_2_1_11_1","first-page":"21","volume-title":"Pathology of the Fetus and Infant","author":"Potter EL","year":"1975"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270204"},{"key":"e_1_2_1_13_1","first-page":"638","article-title":"Absence totale et partielle du pericarde","volume":"63","author":"Pierre A Saint","year":"1970","journal-title":"Arch Mal Coeur"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.122"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270205"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02860.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290133"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420313","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T06:09:51Z","timestamp":1698127791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,2]]}},"alternative-id":["10.1002\/ajmg.1320420313"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420313","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2]]}}}