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
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A. Novelli | A. Primerano | M. Vismara | L. D'antona | E. Colao | S. Loddo | N. Perrotti | P. Malatesta | C. Villella | M. Nocera | A. Ciambrone | E. Luciano