title: Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.
abstract: BACKGROUND
  Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2).
  
  
  METHODS
  We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father.
  
  
  CONCLUSIONS
  Given that the aberration occurred de novo in the father and was transmitted to his son, with both presenting with unilateral left-sided developmental field defects, we suggest a gene dosage effect of the tetrasomic region to be involved in the phenotype of our two patients. Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations.
authors.affiliation: Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Bogs
authors.affiliation: Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Kipfmüller
authors.affiliation: Institute of Clinical Genetics, Bonn, Germany.
authors.forename: Nicolai
authors.initials: N
authors.lastname: Kohlschmidt
authors.affiliation: Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Gembruch
authors.affiliation: Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Müller
authors.affiliation: 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.|Institute of Human Genetics, University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany. reutter@uni-bonn.de.
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
mesh_terms: D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000151:congenital* / Q000235:genetics; D008297:Male; D058670:Tetrasomy
keywords: Case report; Congenital diaphragmatic hernia; Ear anomaly; Partial tetrasomy 4q35.2; Unilateral renal agenesis