The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem
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- Smigiel, R., Pilch, J., Makowska, I. et al. Eur J Pediatr (2008) 167: 1063. doi:10.1007/s00431-007-0608-7
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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.
KeywordsPallister-Killian syndrome 12p mosaic tetrasomy/trisomy/disomy 12p mosaic trisomy/disomy Fibroblasts Lymphocytes Phenotype
Fluorescent in situ hybridisation