{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T22:55:57Z","timestamp":1771887357515,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,1]]},"abstract":"<jats:p>We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. Prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype. The clinical diagnosis of Pallister-Killian syndrome was made after the first year of life because of the typical facial dysmorphism and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, sensorineural hearing loss, and severe psychomotor retardation. Chromosome analysis from skin fibroblasts now showed an isochromosome 12p mosaicism. The origin of the extra chromosome was confirmed by in situ hybridisation using a chromosome 12 specific library. In the second case chromosomal analysis from peripheral lymphocytes at the age of 19 months showed a normal karyotype 46,XY. Following the clinical diagnosis of Pallister-Killian syndrome a superficial skin biopsy was performed which showed very poor and slow growth of cells and a normal karyotype. Because of the typical symptoms a larger and deeper skin biopsy was performed from which there was rapid growth of fibroblasts. Now the diagnosis was established on the basis of the presence of an i(12p) extra chromosome in 69% of the metaphases.<\/jats:p>","DOI":"10.1136\/jmg.32.1.68","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"68-71","source":"Crossref","is-referenced-by-count":39,"title":["Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts."],"prefix":"10.1136","volume":"32","author":[{"given":"D","family":"Horn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"K\u00f6rner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.28.2.122","article-title":"Tetrasomy 12p (Pallister-Killian syndrome)","volume":"28","author":"Schinzel, A.","year":"1991","unstructured":"Schinzel A; Tetrasomy 12p (Pallister-Killian syndrome). Jf Med Genet 1991;28:122-5.","journal-title":"Jf Med Genet"},{"key":"ref_2","first-page":"213","article-title":"Pallister-Killian syndrome in older children and adolescents","volume":"9","author":"Horneff, G.; Majewski, F.; Hildebrand, B.; Voit, T.; Lenard, H.G.","year":"1993","unstructured":"Horneff G, Majewski F, Hildebrand B, Voit T, Lenard HG. Pallister-Killian syndrome in older children and adolescents. Pediatr Neurol 1993;9:213-5.","journal-title":"Pediatr Neurol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1111\/j.1399-0004.1985.tb00416.x","article-title":"Mosaic tetrasomy 12p","volume":"28","author":"Gilgenkrantz, S.; Droulle, P.; Schweitzer, M.","year":"1985","unstructured":"Gilgenkrantz S, Droulle P, Schweitzer M, et al. Mosaic tetrasomy 12p. Clin Genet 1985;28:495-502.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/pd.1970110712","article-title":"Pallister-Killian syndrome diagnosed by chorionic villus sampling","volume":"11","author":"Sharland, M.; Hill, L.; Patel, R.; Patton, M.","year":"1991","unstructured":"Sharland M, Hill L, Patel R, Patton M. Pallister-Killian syndrome diagnosed by chorionic villus sampling. Prenat Diagn 1991;11:477-9.","journal-title":"Prenat Diagn"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/pd.1970080202","article-title":"Prenatal diagnosis of tetrasomy 47, XY,+i (12p) confirmed by in situ hybridization","volume":"8","author":"Shivashankar, L.; Whitney, E.; Colmorgen, G.","year":"1988","unstructured":"Shivashankar L, Whitney E, Colmorgen G, et al. Prenatal diagnosis of tetrasomy 47,XY,+i (12p) confirmed by in situ hybridization. Prenat Diagn 1988;8:85-91.","journal-title":"Prenat Diagn"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1002\/ajmg.1320350417","article-title":"Prenatal diagnosis of Pallister-Killian syndrome","volume":"35","author":"Soukup, S.; Neidich, K.","year":"1990","unstructured":"Soukup S, Neidich K. Prenatal diagnosis of Pallister-Killian syndrome. Am J Med Genet 1990;35:526-8.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/pd.1970120608","article-title":"A further prenatal diagnosis of mosaic tetrasomy 12p (PallisterKillian syndrome)","volume":"12","author":"Tejada, M.I.; Uribarren, A.; Briones, P.; Vilaseca, M.A.","year":"1992","unstructured":"Tejada MI, Uribarren A, Briones P, Vilaseca MA. A further prenatal diagnosis of mosaic tetrasomy 12p (PallisterKillian syndrome). Prenat Diagn 1992;12:529-34.","journal-title":"Prenat Diagn"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/pd.1970110409","article-title":"PallisterKillian mosaic tetrasomy 12p syndrome. Another prenatally diagnosed case","volume":"11","author":"Bresson, J.L.; Arbez-Gindre, F.; Peltie, J.; Gouget, A.","year":"1991","unstructured":"Bresson JL, Arbez-Gindre F, Peltie J, Gouget A. PallisterKillian mosaic tetrasomy 12p syndrome. Another prenatally diagnosed case. Prenat Diagn 1991;11:271-5.","journal-title":"Prenat Diagn"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1399-0004.1988.tb02860.x","article-title":"Risk effect of maternal age in Pallister i(l2p) syndrome","volume":"34","author":"Wenger, S.L.; Steele, M.W.; Yu, W.-D.","year":"1988","unstructured":"Wenger SL, Steele MW, Yu W-D. Risk effect of maternal age in Pallister i(l2p) syndrome. Clin Genet 1988;34: 181-4.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1399-0004.1987.tb02832.x","article-title":"Pallister-Killian syndrome: cytogenetic and molecular studies","volume":"31","author":"Peltomaki, P.; Knuutila, S.; Ritvanen, A.; Kaitila, I.; de la Chapelle, A.","year":"1987","unstructured":"Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A. Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet 1987;31:399-405.","journal-title":"Clin Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.1320420614","article-title":"Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome","volume":"42","author":"SL, Thornburg Reeser; SL, Wenger","year":"1992","unstructured":"Thornburg Reeser SL, Wenger SL. Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome. Am J7 Med Genet 1992;42:815-9.","journal-title":"Am J7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.1.68","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:02:09Z","timestamp":1760774529000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.1.68"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1995,1,1]]},"published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1136\/jmg.32.1.68"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.1.68","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1]]}}}