| The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem. | |
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MedLine Citation:
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PMID: 18000682 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Robert Smigiel; Jacek Pilch; Izabela Makowska; Halina Busza; Ryszard Slezak; Maria M Sasiadek |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-11-14 |
Journal Detail:
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Title: European journal of pediatrics Volume: 167 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-07-28 Completed Date: 2009-01-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 1063-5 Citation Subset: IM |
Affiliation:
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Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50-368, Poland. smigiel@gen.am.wroc.pl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Aberrations* Female Humans In Situ Hybridization, Fluorescence Mosaicism Pallister-Hall Syndrome / diagnosis, genetics*, physiopathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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