Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

Bogs, Thomas; Kipfmüller, Florian; Kohlschmidt, Nicolai; Gembruch, Ulrich; Müller, Andreas; Reutter, Heiko

Bogs, Thomas; Kipfmüller, Florian; Kohlschmidt, Nicolai; Gembruch, Ulrich; Müller, Andreas; Reutter, Heiko.

Afiliação

Bogs T; Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Kipfmüller F; Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Kohlschmidt N; Institute of Clinical Genetics, Bonn, Germany.
Gembruch U; Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Müller A; Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Reutter H; Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany. reutter@uni-bonn.de.

J Med Case Rep ; 10: 76, 2016 Mar 30.

Article em En | MEDLINE | ID: mdl-27036947

Assuntos

Cromossomos Humanos Par 4/genética; Anormalidades Congênitas/genética; Hérnias Diafragmáticas Congênitas/genética; Nefropatias/congênito; Rim/anormalidades; Tetrassomia; Humanos; Recém-Nascido; Cariótipo; Cariotipagem; Nefropatias/genética; Masculino

Palavras-chave

Case report; Congenital diaphragmatic hernia; Ear anomaly; Partial tetrasomy 4q35.2; Unilateral renal agenesis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Cromossomos Humanos Par 4 / Tetrassomia / Hérnias Diafragmáticas Congênitas / Rim / Nefropatias Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha

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