Title: Post-zygotic origin of isochromosome 12p
Authors: de Ravel, Thomy ×
Keymolen, Kathelijn
van Assche, Elvire
Wittevronghel, Ingrid
Moerman, Philippe
Salden, Ivo
Matthijs, Gert
Fryns, Jean-Pierre
Vermeesch, Joris #
Issue Date: Dec-2004
Publisher: John Wiley & Sons
Series Title: Prenatal Diagnosis vol:24 issue:12 pages:984-988
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.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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