A list of Scientific References concerning PKS

Cormier-Daire, V.; Le Merrer, M.; Gigarel, N.; Morichon, N.; Prieur, M.; Lyonnet, S.; Vekemans, M.; Munnich, A.: Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am. J. Med. Genet. 69: 166-168, 1997.

de Bruin, T. W. A.; Slater, R. M.; Defferrari, R.; Geurts van Kessel, A.; Suijkerbuijk, R. F.; Jansen, G.; de Jong, B.; Oosterhuis, J. W.: Isochromosome 12p-positive pineal germ cell tumor. Cancer Res. 54: 1542-1544, 1994.

Hunter, A. G. W.; Clifford, B.; Cox, D. M.: The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. 28: 47-53, 1985.

Mauceri, L.; Sorge, G.; Incorpora, G.; Pavone, L.: Pallister-Killian syndrome: case report with pineal tumor. Am. J. Med. Genet. 95: 75-78, 2000.

Pallister, P. D.; Meisner, L. F.; Elejalde, B. R.; Francke, U.; Herrmann, J.; Spranger, J.; Tiddy, W.; Inhorn, S. L.; Opitz, J. M.: The Pallister mosaic syndrome. Birth Defects Orig. Art. Ser. XIII(3B): 103-110, 1977.

Schinzel, A.:Tetrasomy 12p (Pallister-Killian syndrome). J. Med. Genet. 28: 122-125, 1991.

Schubert, R.; Viersbach, R.; Eggermann, T.; Hansmann, M.; Schwanitz, G.: Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. Am. J. Med. Genet. 72: 106-110, 1997.

Teschler-Nicola, M.; Killian, W.: Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd. Ident. 7: 6-7, 1981.

Warburton, D.; Anyane-Yeboa, K.; Francke, U.: Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister-Mosaic syndrome cases. Am. J. Med. Genet. 27: 275-283, 1987.

Zollino M, Bajer J, Neri G.: Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis. Prenat Diagn. 1999 Feb;19(2):184-5.

To have more: List of scientific papers on pallister-killian

Home Page - What is PKS? - Real Cases - Links - Statistics - Scientific Papers || Perche' questo sito - La Sindrome PK