Am J Med Genet A. 2003 Dec 15;123A(3):296-300.

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Leube B, Majewski F, Gebauer J, Royer-Pokora B.

Source

Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany. Leube@uni-duesseldorf.de

Abstract

Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. DNA-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome.

PMID:: 14608653; [PubMed - indexed for MEDLINE]

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The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem. [Eur J Pediatr. 2008]
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Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM. Eur J Pediatr. 2008 Sep; 167(9):1063-5. Epub 2007 Nov 14.
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Clinical, cytogenetic, and molecular observations in a patient with Pallister-Ki...
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
Am J Med Genet A. 2003 Dec 15 ;123A(3):296-300.

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