A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

von Primerano, A., Colao, E., Villella, C., Nocera, M. D., Ciambrone, A., Luciano, E., D’Antona, L., Vismara, M. F. M., Loddo, S., Novelli, A., Perrotti, N., Malatesta, Paola
Veröffentlicht in Mol Cytogenet (2015)