Genetic Conditions > Pallister-Killian mosaic syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Pallister-Killian mosaic syndrome.

Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. Review. PubMed citation
Huang XL, Isabel de Michelena M, Leon E, Maher TA, McClure R, Milunsky A. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet. 2007 Nov;72(5):434-40. Epub 2007 Sep 25. PubMed citation
Leube B, Majewski F, Gebauer J, Royer-Pokora B. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet A. 2003 Dec 15;123A(3):296-300. PubMed citation
Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). Ann Genet. 1997;40(1):45-54. PubMed citation
Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991 Feb;28(2):122-5. PubMed citation
Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM. The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem. Eur J Pediatr. 2008 Sep;167(9):1063-5. Epub 2007 Nov 14. PubMed citation
Stalker HJ, Gray BA, Bent-Williams A, Zori RT. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am J Med Genet A. 2006 Sep 15;140(18):1950-4. PubMed citation
Struthers JL, Cuthbert CD, Khalifa MM. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Am J Med Genet. 1999 May 21;84(2):111-5. Review. PubMed citation
Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM. Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p. Am J Med Genet A. 2009 Mar;149A(3):510-4. doi: 10.1002/ajmg.a.32681. PubMed citation
Yeung A, Francis D, Giouzeppos O, Amor DJ. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664. PubMed citation


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