title: De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
abstract: BACKGROUND
  It is known from postnatal diagnosis that imbalances of the subtelomeric regions contribute significantly to idiopathic mental retardation.
  
  
  METHODS
  We report a case of a 4-year-old child with growth retardation, minor physical abnormalities, hypotonia and developmental delay associated with a derivative chromosome 4. Molecular cytogenetic investigations were performed to characterize the chromosomal rearrangement.
  
  
  RESULTS
  Multi fluorescence in situ hybridization revealed the presence of chromosome 2 material on the derivative chromosome 4. Metaphase comparative genomic hybridization detected a terminal 4q34 deletion. Array CGH analysis could precise breakpoints with duplication 2q36 → qter. The clinical phenotype was similar to those described in cases with a trisomy 2qter.
  
  
  CONCLUSIONS
  This study emphasizes the value of array CGH to detect or characterize chromosome rearrangements in mentally retarded patients. Unlike metaphase CGH, the high resolution of array CGH in subtelomeric regions allows an accurate description of chromosomal aberrations.
authors.affiliation: Service de Cytogénétique Médicale, Faculté de Médecine, CHU Clermont-Ferrand, Université Clermont 1, BP 38, 1 place Lucie-Aubrac, 63003 Clermont-Ferrand cedex 1, France.
authors.forename: A
authors.initials: A
authors.lastname: Debost-Legrand
authors.forename: Y
authors.initials: Y
authors.lastname: Capri
authors.forename: L
authors.initials: L
authors.lastname: Gouas
authors.forename: C
authors.initials: C
authors.lastname: Pebrel-Richard
authors.forename: L
authors.initials: L
authors.lastname: Veronese
authors.forename: A
authors.initials: A
authors.lastname: Tchirkov
authors.forename: K
authors.initials: K
authors.lastname: Haoud
authors.forename: O
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: C
authors.initials: C
authors.lastname: Goumy
authors.forename: P
authors.initials: P
authors.lastname: Vago
mesh_terms: D057215:Body Dysmorphic Disorders / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008677:Metaphase / Q000235:genetics; D046228:Microarray Analysis / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics