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  • Title: Post-zygotic origin of isochromosome 12p.
    Author: de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Journal: Prenat Diagn; 2004 Dec 15; 24(12):984-8. PubMed ID: 15614858.
    Abstract:
    OBJECTIVE: Advance knowledge about the mechanism of isochromosome formation. METHODS: Echographic examination of the foetus. G- and/or T-banded chromosome and FISH analysis using chromosome 12p subtelomeric probes on short- and long-term CVS cultures, amniocytes and foetal fibroblasts. Polymorphic CA repeat analysis on DNA from the foetus and both parents. RESULTS: Short-term CVS cultures showed a 46,XX karyotype, whilst long-term CVS cultures showed a 47,XX,+12 karyotype. FISH on amniocytes indicated 2, 3 and 4 signals. Foetal fibroblasts showed both 47,XX,+12 and 47,XX,+i(12)(p10) karyotypes. DNA analysis revealed the isochromosome to be paternal in origin, whilst the other two foetal chromosomes 12 were maternal, part iso- and part heterodisomy. CONCLUSION: The cytogenetic and DNA constitution of the foetus indicated the isochromosome 12p to be of paternal origin, and implied post-zygotic formation of the isochromosome 12p in the Pallister-Killian syndrome.
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