{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074687,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,8]]},"abstract":"<jats:p>We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX\/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.<\/jats:p>","DOI":"10.1136\/jmg.28.8.541","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"541-543","source":"Crossref","is-referenced-by-count":19,"title":["Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage."],"prefix":"10.1136","volume":"28","author":[{"given":"D R","family":"McLeod","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L R","family":"Wesselman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D I","family":"Hoar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,8,1]]},"reference":[{"key":"ref_1","first-page":"103","article-title":"The Pallister mosaic syndrome","author":"Pallister, P.D.; Meisner, L.F.; Elejalde, B.R.","year":"1977","unstructured":"Pallister PD, Meisner LF, Elejalde BR, et al. The Pallister mosaic syndrome. In: Bergsma D, Lowry RB. eds. New syndromes. New York: Alan R Liss, for the National Foundation-March of Dimes. Birth Defects 1977;XHII (3B): 103-10."},{"key":"ref_2","first-page":"2","article-title":"Killian syndrome, Pallister mosaic syndrome, or mosaic tetrasomy l2p? An analysis","volume":"1","author":"Buyse, M.L.","year":"1983","unstructured":"Buyse ML. Killian syndrome, Pallister mosaic syndrome, or mosaic tetrasomy l2p? An analysis. J Clin Dysmorphol 1983;1: 2-5!","journal-title":"J Clin Dysmorphol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1399-0004.1985.tb01217.x","article-title":"The characteristic physiognomy and tissue specific karyotype distribution in the PallisterKilian syndrome","volume":"28","author":"Hunter, A.G.W.; Clifford, B.; Cox, D.M.","year":"1985","unstructured":"Hunter AGW, Clifford B, Cox DM. The characteristic physiognomy and tissue specific karyotype distribution in the PallisterKilian syndrome. Clin Genet 1985;28:47-53.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ajmg.1320270204","article-title":"Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases","volume":"27","author":"Reynolds, J.F.; Daniel, A.; Kelly, T.E.","year":"1987","unstructured":"Reynolds JF, Daniel A, Kelly TE, et al. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet 1987;27: 257-74.","journal-title":"Am J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.1320270207","article-title":"Mosaic isochromosome 12p","volume":"27","author":"Pauli, R.M.; Zeier, R.A.; Sekhon, G.S.","year":"1987","unstructured":"Pauli RM, Zeier RA, Sekhon GS. Mosaic isochromosome 12p. Am J Med Genet 1987;27:291-4.","journal-title":"Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/ajmg.1320270205","article-title":"Mosaic tetrasomy l2p: four new cases and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-mosaic syndrome cases","volume":"27","author":"Warburton, D.; Anyane-Yeboa, K.; Francke, U.","year":"1987","unstructured":"Warburton D, Anyane-Yeboa K, Francke U. Mosaic tetrasomy l2p: four new cases and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-mosaic syndrome cases. Am J Med Genet 1987;27: 275-83.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1002\/ajmg.1320310413","article-title":"The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome","volume":"31","author":"Moerman, P.; Fryns, J.P.; Vandenberghe, K.; Devlieger, H.; Lauweryns, J.M.","year":"1988","unstructured":"Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet 1988;31:805-14.","journal-title":"Am J Med Genet"},{"key":"ref_8","first-page":"233","article-title":"Prenatal diagnosis of tetrasomy 21","volume":"5","year":"1985","unstructured":"Lopes V, Mak E, Wyatt PR. Prenatal diagnosis of tetrasomy 21. Prenat Diagn 1985;5:233-5."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/ajmg.1320290133","article-title":"Pallister-Kiliian syndrome-an update of a clinical case","volume":"29","author":"Wyatt, PR","year":"1988","unstructured":"Wyatt PR. Pallister-Kiliian syndrome-an update of a clinical case. 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