Article
Prenatal diagnosis of mosaic tetrasomy 8p.
American journal of medical genetics. Part A - 1 Jul 2003
Le Bris Marie-Josée, Marcorelles Pascale, Audrézet Marie-Pierre, Parent Philippe, Heren Patrick, Le Guern Hélène, Herry Angèle, Morel Fréderic, Collet Michel, Férec Claude, De Braekeleer Marc
Abstract excerpt
Tetrasomy 8p is a rare chromosomal disorder that has only been detected in a mosaic form. At the present time, 11 cases have been reported; their phenotype included agenesis of the corpus callosum, enlarged ventricles, minor facial dysmorphism, rib and vertebral anomalies, and mild to moderate developmental delay. To the best of our knowledge, tetrasomy 8p has never been prenatally diagnosed. This 43-year-old...
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