PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

F. Fiorentino1, L. Spizzichino1, S. Bono1, A. Biricik1, G. Kokkali2, L. Rienzi3, F.M. Ubaldi3, E. Iammarrone1, A. Gordon4 and K. Pantos2  
1. ‘GENOMA'—Molecular Genetics Laboratory, Via PO, 102, 00198 Rome, Italy  
2. Centre for Human Reproduction, Genesis Athens Hospital, Athens, Greece  
3. G.EN.E.R.A Centre for Reproductive Medicine, Clinica Valle Giulia, Via G. De Notaris 2, 00197Rome, Italy  
4. Bluegnome Ltd, Cambridge CB22 5LD, UK


BACKGROUND Fluorescence in situ hybridization (FISH) is the most widely used method for detecting unbalanced chromosome rearrangements in preimplantation embryos but it is known to have several technical limitations. We describe the clinical application of a molecular-based assay, array comparative genomic hybridization (array-CGH), to simultaneously screen for unbalanced translocation derivatives and aneuploidy of all 24 chromosomes.


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