Tetrasomy 12p or syndrome de Pallister-Killian Interest of the diagnostic on buccal smear
Vigneron, J.; Gregoire, M.J.; Andre, M.; Moret, C.; Hascoet, J.M.
European Journal of Human Genetics 10(Suppl 1): 285
2002
ISSN/ISBN: 1018-4813
Accession: 035838143
PDF emailed within 1 workday: $29.90
Related References
Chrzanowska, K.; Fryns, J.P. 1989: La tétrasomie 12p (syndrome de Pallister-Killian): un diagnostic possible avant l'âge d'un an - Tetrasomy 12p (Pallister-Killian syndrome) Club Europeen de Conseil Genetique. Journees 15 (1989) 37(3): 259-261Cobben, J.M.; Engelen, M.; Polstra, A. 2013: Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice American Journal of Medical Genetics. Part a 161a (6): 1517-1519
Alqahtani, A.Salem.; Putoux, A.; Bonnet Dupeyron, M.Noelle.; Carneiro, M.; Lion-Francois, L.; Rossi, M.; Tevissen, Hélène.; Schluth Bolard, C.; Labalme, A.; Lesca, G.; Till, M.; Edery, P.; Sanlaville, D. 2019: Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature Molecular Genetics and Genomic Medicine 7(10): E00939
Pankau, R.; Diebold, U.; Jenderny, J.; Kautza, M.; Dörner, K. 1992: Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p) Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft für Kinderheilkunde 140(6): 340-342
Sukarova-Angelovska, E.; Kocova, M.; Ilieva, G.; Angelkova, N.; Kochova, E. 2016: Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear Molecular Cytogenetics 9: 38
Velagaleti, G.V.N.; Tapper, J.K.; Rampy, B.A.; Zhang, S.; Hawkins, J.C.; Lockhart, L.H. 2003: A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome Genetic Testing 7(3): 219-223
Schinzel, A. 1991: Tetrasomy 12p (Pallister-Killian syndrome) Journal of Medical Genetics 28(2): 122-125
Gilgenkrantz, S.; Fryns, J.P.; Droulle, P.; Schweitzer, M.; Chadefaux, B.; Prieur, M. 1987: Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21 Journal de Genetique Humaine 35(1): 51-61
Antich Femenias, J.; Briones Godino, M.P.; Vilaseca Busca, M.A.; Girós Blasco, M.L.; Campos Castelló, J.; Jaume Roig, B.; Clusellas Casals, N. 1991: Pallister-Killian syndrome and 12p tetrasomy: increased LDH-B activity Anales Espanoles de Pediatria 34(6): 459-462
Priest, J.H. 1993: Prenatal diagnosis of tetrasomy 12p (Pallister-Killian syndrome) Prenatal Diagnosis 13(2): 152
González de Dios, J.; García-Alix Pérez, A.; Díaz de Bustamante, A.; Delicado Navarro, A.; Arés Segura, S.; Salas Hernández, S.; Quero Jiménez, J. 1993: A case of neonatal Pallister-Killian syndrome (tetrasomy 12p) Anales Espanoles de Pediatria 38(3): 277-279
Gerdes, A.-M.; Hansen, L.K.; Brandrup, F.; Soegaard, K.; Christoffersen, A.; Rasmussen, K. 2006: Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p Pediatric Dermatology 23(4): 378-381
Chrzanowska, K.; Fryns, J.P. 1989: Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year Journal de Genetique Humaine 37(3): 259-261
Ohashi, H.; Ishikiriyama, S.; Fukushima, Y. 1993: New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization American Journal of Medical Genetics 45(1): 123-128
Geneviève, D.; Sznajer, Y.; Raoul, M.; Sanlaville, D.; Verloes, A.; Portnoï, M.F.; Bauman, C. 2003: Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p) American Journal of Medical Genetics. Part a 122a (2): 180-182
Kunz, J.; Schoner, K.; Stein, W.; Rehder, H.; Fritz, B. 2009: Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis Archives of Gynecology and Obstetrics 280(6): 1049-1053
Young, I.D.; Duckett, D.P.; O'Reilly, K.M. 1989: Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome Annales de Genetique 32(1): 62-64
Tejada, M.I.; Uribarren, A.; Briones, P.; Vilaseca, M.A. 1992: A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome) Prenatal Diagnosis 12(6): 529-534
Bresson, J.L.; Arbez-Gindre, F.; Peltie, J.; Gouget, A. 1991: Pallister Killian--mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case Prenatal Diagnosis 11(4): 271-275
Antich, J.; Jaume, B.; Briones, M.P.; Vilaseca, M.A.; Campos, J.; Clusellas, N. 1988: Pallister killian syndrome and tetrasomy 12p marked ldh b gene dosage effect American Journal of Human Genetics 43(3 Suppl): A101