title: [Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].
abstract: BACKGROUND
  1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown.
  
  
  OBJECTIVE
  To illustrate the phenotypic variability in 1q21.1 microdeletion syndrome.
  
  
  METHODS
  Four individuals of the same kindred harboring a 1.74-Mb deletion within 1q21.1 are included. In our patients a heterogeneous phenotype is recognized. Neuropsychiatric disorders or more specifically impulse control disorders were common to all the four cases that we present.
  
  
  CONCLUSIONS
  1q21.1 microdeletion syndrome is phenotypically heterogeneous even among members of the same family. Behavioral or neuropsychiatric abnormalities are frequent. Paucisymptomatic forms with individuals presenting exclusively psychiatric disorders have been identified.
authors.affiliation: Hospital Universitario de Fuenlabrada, Fuenlabrada, Espana.
authors.forename: Daniel
authors.initials: D
authors.lastname: Natera-De Benito
authors.affiliation: Hospital Universitario de Fuenlabrada, Fuenlabrada, Espana.
authors.forename: Arantxa
authors.initials: A
authors.lastname: Vidal-Esteban
authors.affiliation: Hospital Universitario 12 de Octubre, Madrid, Espana.
authors.forename: Jaime
authors.initials: J
authors.lastname: Sanchez-Del Pozo
authors.affiliation: Hospital Universitario 12 de Octubre, Madrid, Espana.
authors.forename: Marta
authors.initials: M
authors.lastname: Moreno-Garcia
authors.affiliation: NIMGENETICS (New Integrated Medical Genetics). Parque Cientifico de Madrid, Madrid, Espana.
authors.forename: Javier
authors.initials: J
authors.lastname: Suela-Rubio
authors.affiliation: Hospital Universitario 12 de Octubre, Madrid, Espana.
authors.forename: Jaime
authors.initials: J
authors.lastname: Cruz-Rojo
authors.affiliation: Hospital Universitario de Fuenlabrada, Fuenlabrada, Espana.
authors.forename: María José
authors.initials: MJ
authors.lastname: Rivero-Martin
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D007174:Disruptive, Impulse Control, and Conduct Disorders / Q000235:genetics* / Q000523:psychology; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D008297:Male; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D013577:Syndrome