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.

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

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.

Afiliação

Primerano A; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Colao E; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Villella C; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Nocera MD; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Ciambrone A; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Luciano E; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
D'Antona L; Department of "Scienze della Salute", Università UMG di Catanzaro, Catanzaro, Italy.
Vismara MFM; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.
Loddo S; Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy.
Novelli A; Genetics Unit, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Perrotti N; Department of "Scienze della Salute", Università UMG di Catanzaro, Catanzaro, Italy.
Malatesta P; Unit of Medical Gentics, University Hospital Mater Domini, Catanzaro, Italy.

Mol Cytogenet ; 8: 70, 2015.

Article em En | MEDLINE | ID: mdl-26336513

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Cytogenet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália

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