Article
Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones.
Annales de genetique - 1 Jan 1997
Miller K, Arslan-Kirchner A, Schulze B, Dudel-Neujahr A, Morlot M, Burck U, Gerresheim F
Abstract excerpt
Three new observations of trisomy 8 mosaicism are presented. In two postnatal cases, both patients showed agenesis of corpus callosum associated with different clinical findings. In a third case, the prenatal diagnosis revealed trisomy 8 mosaicism exclusively in chorionic villi (CV) cells long term culture. Normal results were obtained in CV direct preparation and in cultured amniotic cells. In lymphocytes, the...
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