title: Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.
abstract: BACKGROUND
  Congenital heart diseases (CHDs) are often associated with other congenital anomalies, dysmorphic features, and developmental delay, and only a few cases of chromosomal abnormalities are detected by conventional cytogenetic techniques. The microarray comparative genomic hybridization (CGH) analysis allows the identification of submicroscopic genomic rearrangements.
  
  
  METHODS
  During the past 3 y, 55 of 330 patients referred for array CGH had CHD of unknown etiology plus at least one additional indication of abnormal chromosomal phenotype. High-resolution 1 × 244 K or 4 × 180 K Agilent arrays were used in this study (average resolution 7-13 kb).
  
  
  RESULTS
  Copy-number variations were detected in 37 of 55 patients, and in 29 of 37 patients there were genes that have been associated with CHD. All 37 patients had at least one additional phenotypic abnormality: 30 of 37 had one or more other congenital anomalies, 23 of 37 had dysmorphic features, 16 of 37 had intellectual disability, 13 of 37 had abnormal magnetic resonance imaging, 10 of 37 had hypotonia, and 7 of 37 had seizures. In 9 of 55 patients, unexpected genomic rearrangements in relation to their phenotype were identified.
  
  
  CONCLUSIONS
  In patients with CHD and at least one additional indication of abnormal chromosomal phenotype, array CGH analysis could detect possible submicroscopic chromosomal abnormalities and provide proper genetic counseling.
authors.affiliation: Department of Medical Genetics, Medical School, University of Athens, Athens, Greece.
authors.forename: Areti
authors.initials: A
authors.lastname: Syrmou
authors.forename: Maria
authors.initials: M
authors.lastname: Tzetis
authors.forename: Helen
authors.initials: H
authors.lastname: Fryssira
authors.forename: Konstantina
authors.initials: K
authors.lastname: Kosma
authors.forename: Vasilis
authors.initials: V
authors.lastname: Oikonomakis
authors.forename: Krinio
authors.initials: K
authors.lastname: Giannikou
authors.forename: Periklis
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D055028:Comparative Genomic Hybridization; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome