Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
European journal of human genetics : EJHG - 1 Jun 2008
Schneider Anouck, Benzacken Brigitte, Guichet Agnès, Verloes Alain, Bonneau Dominique, Collot Nathalie, Dastot-Le-Moal Florence, Goossens Michel, Taine Laurence, Landais Emilie, Gaillard Dominique, Doco-Fenzy Martine
Abstract excerpt
Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3-14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. Thanks to a collaborative study on behalf of the 'Association des Cytogeneticiens de langue Française'(ACLF), we report two patients with terminal deletion of the long arm of...
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