title: [Subtelomeric rearrangements in cryptogenic mental retardation].
abstract: BACKGROUND
  Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause.
  
  
  METHODS
  A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array).
  
  
  RESULTS
  A subtelomeric aberration was identified in 9 patients. Eight were «de novo»; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy.
  
  
  CONCLUSIONS
  Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration.
authors.affiliation: Unidad de Neurología Pediátrica, Hospital Virgen de la Salud, Toledo, España. averdu@sescam.jccm.es
authors.forename: A
authors.initials: A
authors.lastname: Verdú Pérez
authors.forename: P L
authors.initials: PL
authors.lastname: García Murillo
authors.forename: O
authors.initials: O
authors.lastname: García Campos
authors.forename: F
authors.initials: F
authors.lastname: López Grondona
authors.forename: G
authors.initials: G
authors.lastname: Arriola Pereda
authors.forename: M A
authors.initials: MA
authors.lastname: Alcaraz Rousselet
authors.forename: Y
authors.initials: Y
authors.lastname: Vicente Lago
authors.forename: J
authors.initials: J
authors.lastname: Suela
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D016615:Telomere / Q000235:genetics*