The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.
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.
Smigiel
Robert
R
Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50-368, Poland. smigiel@gen.am.wroc.pl
Pilch
Jacek
J
Makowska
Izabela
I
Busza
Halina
H
Slezak
Ryszard
R
Sasiadek
Maria M
MM
D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D054975:Pallister-Hall Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*