Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Stavber, Lana; Bertok, Sara; Kovac, Jernej; Volk, Marija; Lovrecic, Luca; Battelino, Tadej; Hovnik, Tinka

Stavber, Lana; Bertok, Sara; Kovac, Jernej; Volk, Marija; Lovrecic, Luca; Battelino, Tadej; Hovnik, Tinka.

Afiliação

Stavber L; University Children's Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525 Ljubljana, Slovenia.
Bertok S; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC, Ljubljana, Slovenia.
Kovac J; University Children's Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525 Ljubljana, Slovenia.
Volk M; Clinical Institute of Medical Genetic, UMC, Ljubljana, Slovenia.
Lovrecic L; Clinical Institute of Medical Genetic, UMC, Ljubljana, Slovenia.
Battelino T; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC, Ljubljana, Slovenia.
Hovnik T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Mol Cytogenet ; 10: 10, 2017.

Article em En | MEDLINE | ID: mdl-28344653

Palavras-chave

Developmental delay; Dysmorphic features; Small supernumerary marker chromosome; Speech delay; fluorescence in situ hybridization

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Eslovênia