Post-zygotic origin of isochromosome 12p
| Autor: | Joris Vermeesch, Thomy de Ravel, Gert Matthijs, Elvire Van Assche, Kathelijn Keymolen, Ingrid Wittevronghel, Jean-Pierre Fryns, I Salden, Philippe Moerman |
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| Přispěvatelé: | Clinical sciences, Faculty of Medicine and Pharmacy, Faculty of Physical Education and Physical Therapy, Medical Genetics |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Chorionic Villi/ultrastructure Zygote Isochromosome Prenatal diagnosis Gestational Age Amniotic Fluid/cytology Biology Pallister–Killian syndrome Ulnar–mammary syndrome Pregnancy Prenatal Diagnosis medicine Humans Genetics (clinical) reproductive and urinary physiology Alleles Cells Cultured In Situ Hybridization Fluorescence Fetus Chromosomes Human Pair 12/genetics Chromosomes Human Pair 12 Obstetrics and Gynecology Chromosome Karyotype DNA/analysis Isochromosomes/genetics DNA Fibroblasts medicine.disease Subtelomere Amniotic Fluid Molecular biology Chromosome Banding Isochromosomes Karyotyping embryonic structures Female Chorionic Villi |
| Zdroj: | Prenatal diagnosis. 24(12) |
| ISSN: | 0197-3851 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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