We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Post-zygotic origin of isochromosome 12p.
- Authors
de Ravel, Thomy J. L.; Keymolen, Kathelijn; van Assche, Elvire; Wittevronghel, Ingrid; Moerman, Philippe; Salden, Ivo; Matthijs, Gert; Fryns, Jean-Pierre; Vermeesch, Joris R.
- 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. Copyright © 2004 John Wiley & Sons, Ltd.
- Publication
Prenatal Diagnosis, 2004, Vol 24, Issue 12, p984
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/pd.956