Molecular cytogenetic characterisation of a novel <i>de novo</i> ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.

Pace, Nikolai Paul; Maggouta, Frideriki; Twigden, Melissa; Borg, Isabella

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.

Pace, Nikolai Paul; Maggouta, Frideriki; Twigden, Melissa; Borg, Isabella.

Afiliação

Pace NP; Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Maggouta F; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
Twigden M; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
Borg I; Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.

Mol Cytogenet ; 10: 9, 2017.

Article em En | MEDLINE | ID: mdl-28344652

Palavras-chave

Dysmorphology; FOXC1 gene; Molecular cytogenetics; Renovascular disease; Ring chromosome 6

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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: 2017 Tipo de documento: Article País de afiliação: Malta

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