European Journal of Pediatrics

, Volume 167, Issue 9, pp 1063–1065

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


    • Department of GeneticsWroclaw Medical University
  • Jacek Pilch
    • Department of Child NeurologyMedical University of Silesia
  • Izabela Makowska
    • Department of GeneticsWroclaw Medical University
  • Halina Busza
    • Department of GeneticsWroclaw Medical University
  • Ryszard Slezak
    • Department of GeneticsWroclaw Medical University
  • Maria M. Sasiadek
    • Department of GeneticsWroclaw Medical University
Short Report

DOI: 10.1007/s00431-007-0608-7

Cite this article as:
Smigiel, R., Pilch, J., Makowska, I. et al. Eur J Pediatr (2008) 167: 1063. doi:10.1007/s00431-007-0608-7


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.


Pallister-Killian syndrome12p mosaic tetrasomy/trisomy/disomy12p mosaic trisomy/disomyFibroblastsLymphocytesPhenotype



Pallister-Killian syndrome


Fluorescent in situ hybridisation

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© Springer-Verlag 2007