European Journal of Pediatrics

, Volume 167, Issue 9, pp 1063–1065 | Cite as

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

  • Robert Smigiel
  • Jacek Pilch
  • Izabela Makowska
  • Halina Busza
  • Ryszard Slezak
  • Maria M. Sasiadek
Short Report

Abstract

The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.

Keywords

Pallister-Killian syndrome 12p mosaic tetrasomy/trisomy/disomy 12p mosaic trisomy/disomy Fibroblasts Lymphocytes Phenotype 

Abbreviations

PKS

Pallister-Killian syndrome

FISH

Fluorescent in situ hybridisation

References

  1. 1.
    Allen TL, Brothman AR, Carey JC, Chance PF (1996) Cytogenetic and molecular analysis in trisomy 12p. Am J Med Genet 63:250–256PubMedCrossRefGoogle Scholar
  2. 2.
    Bielanska MM, Khalifa MM, Duncan AMV (1996) Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104–108PubMedCrossRefGoogle Scholar
  3. 3.
    Killian W, Teschler-Nicola M (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 7:6–7Google Scholar
  4. 4.
    Leube B, Majewski F, Gebauer J, Royer-Pokora B (2003) Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet A 123A:296–300PubMedCrossRefGoogle Scholar
  5. 5.
    Los FJ, Van Opstal DV, Schol MP, Gaillard JLJ, Brandenburg H, van den Ouweland AMW, Veld PAI (1995) Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome. Prenat Diagn 15:1155–1159PubMedCrossRefGoogle Scholar
  6. 6.
    Pallister PD, Meisner LF, Elejalde BR, Francke U, Herrmann J, Spranger J, Tiddy W, Inhorn SL, Opitz JM (1977) The Pallister mosaic syndrome. Birth Defects Orig Artic Ser 13(3B):103–110PubMedGoogle Scholar
  7. 7.
    Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, Opitz JM (1987) Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet 27:257–274PubMedCrossRefGoogle Scholar
  8. 8.
    Saito Y, Masuko K, Kaneko K, Chikumaru Y, Saito K, Iwamoto H, Matsui A, Aida N, Kurosawa K, Kuroki Y, Kimura S (2006) Brain MRI findings of older patients with Pallister-Killian syndrome. Brain Dev 28(1):34–38PubMedCrossRefGoogle Scholar
  9. 9.
    Schaefer GB, Jochar A, Muneer R, Sanger WG (1997) Clinical variability of tetrasomy 12p. Clin Genet 51:102–108PubMedCrossRefGoogle Scholar
  10. 10.
    Schinzel A (1991) Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122–125PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Robert Smigiel
    • 1
  • Jacek Pilch
    • 2
  • Izabela Makowska
    • 1
  • Halina Busza
    • 1
  • Ryszard Slezak
    • 1
  • Maria M. Sasiadek
    • 1
  1. 1.Department of GeneticsWroclaw Medical UniversityWroclawPoland
  2. 2.Department of Child NeurologyMedical University of SilesiaKatowicePoland

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