title: Phenotype in patients with intellectual disability and pathological results in array CGH.
abstract: BACKGROUND
  Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test.
  
  
  METHODS
  We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH.
  
  
  RESULTS
  Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25).
  
  
  CONCLUSIONS
  Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.
authors.affiliation: Servicio de Pediatría, Hospital Obispo Polanco, Teruel, España. Electronic address: vcaballero@salud.aragon.es.
authors.forename: V
authors.initials: V
authors.lastname: Caballero Pérez
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: F J
authors.initials: FJ
authors.lastname: López Pisón
authors.affiliation: Sección de Genética, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: M D
authors.initials: MD
authors.lastname: Miramar Gallart
authors.affiliation: Servicio de Farmacia, Hospital Obispo Polanco, Teruel, España.
authors.forename: A
authors.initials: A
authors.lastname: González Álvarez
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: M C
authors.initials: MC
authors.lastname: García Jiménez
authors.affiliation: Servicio de Cuidados Intensivos Pediátricos, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: J P
authors.initials: JP
authors.lastname: García Iñiguez
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: C
authors.initials: C
authors.lastname: Orden Rueda
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: I
authors.initials: I
authors.lastname: Gil Hernández
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: C
authors.initials: C
authors.lastname: Fuertes Rodrigo
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
authors.forename: R
authors.initials: R
authors.lastname: Fernando Martínez
authors.affiliation: Sección de Genética, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: A
authors.initials: A
authors.lastname: Rodríguez Valle
authors.affiliation: Sección de Genética, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: M J
authors.initials: MJ
authors.lastname: Alcaine Villarroya
mesh_terms: D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology*; D008297:Male; D010641:Phenotype
keywords: Aetiological diagnosis; Array comparative genomic hybridisation; Array de hibridación genómica comparada; Discapacidad intelectual; Global developmental delay; Intellectual disability; Resultado diagnóstico; Retraso global del desarrollo