Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

@article{Schneider2008MolecularCC,
  title={Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia},
  author={Anouck Schneider and Brigitte Benzacken and Agn{\`e}s Guichet and Alain Verloes and D. Bonneau and Nathalie Collot and Florence Dastot-Le-Moal and Michel Goossens and Laurence Taine and Emilie Landais and Dominique Gaillard and Martine Doco-Fenzy},
  journal={European Journal of Human Genetics},
  year={2008},
  volume={16},
  pages={680-687}
}
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 chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere… CONTINUE READING