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Xu, R. Pallister-Killian Mosaic Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4939 (accessed on 26 September 2026).
Xu R. Pallister-Killian Mosaic Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4939. Accessed September 26, 2026.
Xu, Rita. "Pallister-Killian Mosaic Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4939 (accessed September 26, 2026).
Xu, R. (2020, December 24). Pallister-Killian Mosaic Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4939
Xu, Rita. "Pallister-Killian Mosaic Syndrome." Encyclopedia. Web. 24 December, 2020.
Pallister-Killian Mosaic Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pallister-killian-mosaic-syndrome

Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.

genetic conditions

References

  1. Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Developmental andbehavioral characteristics of individuals with Pallister-Killian syndrome. Am JMed Genet A. 2012 Dec;158A(12):3018-25. doi: 10.1002/ajmg.a.35670.
  2. 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.
  3. 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 Sep15;140(18):1950-4.
  4. Struthers JL, Cuthbert CD, Khalifa MM. Parental origin of the isochromosome12p in Pallister-Killian syndrome: molecular analysis of one patient and reviewof the reported cases. Am J Med Genet. 1999 May 21;84(2):111-5. Review.
  5. Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM. Pallister-Killiansyndrome 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.
  6. Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, IzumiK, Pallister P, Krantz ID. Novel clinical manifestations in Pallister-Killiansyndrome: comprehensive evaluation of 59 affected individuals and review ofpreviously reported cases. Am J Med Genet A. 2012 Dec;158A(12):3002-17. doi:10.1002/ajmg.a.35722.
  7. Yeung A, Francis D, Giouzeppos O, Amor DJ. Pallister-Killian syndrome causedby mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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