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
Crossref DOI link: https://doi.org/10.1186/s13039-015-0172-1
Published Online: 2015-09-02
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
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
Funding for this research was provided by:
MIUR-PRIN (prot. 2010JCWWKM_002)