Article
Post-zygotic origin of isochromosome 12p.
Prenatal diagnosis - 15 Dec 2004
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 excerpt
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...
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