Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna; Bache, Iben; Knabe, Niels; Miranda, Maria J; Tümer, Zeynep

Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna; Bache, Iben; Knabe, Niels; Miranda, Maria J; Tümer, Zeynep.

Afiliação

Jespersgaard C; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.
Damgaard IN; Department of Paediatrics, Copenhagen University Hospital, Herlev, Denmark.
Cornelius N; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.
Bache I; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark ; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Knabe N; Department of Paediatrics, Copenhagen University Hospital, Herlev, Denmark.
Miranda MJ; Department of Paediatrics, Copenhagen University Hospital, Herlev, Denmark.
Tümer Z; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.

Mol Cytogenet ; 9: 11, 2016.

Article em En | MEDLINE | ID: mdl-26855673

Palavras-chave

21q22; Monosomy 21; Partial monosomy; Translocation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Dinamarca

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