title: Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
abstract: BACKGROUND
  Microdeletions of the 7q11.23 Williams-Beuren syndrome chromosome region (WBSCR) are reported with a frequency of 1 in 10,000, whereas microduplications of the region, although expected to occur at the same frequency, are not widely reported.
  
  
  METHODS
  We evaluated a 9-year old Omani boy for idiopathic intellectual disability using genetic methods, including multiplex ligation-dependent probe amplification (MLPA), for detection of microdeletions (P064-B3).
  
  
  RESULTS
  MLPA analysis revealed that the boy has a rare microduplication of the WBSCR. Prominent clinical features include global developmental delay with pronounced speech delay, dysmorphic facies, and autistic features.
  
  
  CONCLUSIONS
  Microduplications, in general, are reported at a lesser frequency, perhaps owing to their milder phenotype. Complete genetic assessment in children with idiopathic intellectual disability would help in identifying rare conditions such as duplication of the WBSCR.
authors.affiliation: Department of Human Genetics, Sri Ramachandra University, Chennai, India.
authors.forename: Shruthi
authors.initials: S
authors.lastname: Mohan
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Kochi, India.
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Kochi, India.
authors.forename: Dhanya
authors.initials: D
authors.lastname: Yesodharan
authors.affiliation: Department of Human Genetics, Sri Ramachandra University, Chennai, India.
authors.forename: Vettriselvi
authors.initials: V
authors.lastname: Venkatesan
authors.affiliation: Department of Human Genetics, Sri Ramachandra University, Chennai, India.
authors.forename: Teena
authors.initials: T
authors.lastname: Koshy
authors.affiliation: Department of Human Genetics, Sri Ramachandra University, Chennai, India.
authors.forename: Solomon F D
authors.initials: SF
authors.lastname: Paul
authors.affiliation: Department of Human Genetics, Sri Ramachandra University, Chennai, India venkip@yahoo.com.
authors.forename: Venkatachalam
authors.initials: V
authors.lastname: Perumal
mesh_terms: D002648:Child; D058674:Chromosome Duplication; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009850:Oman; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*
keywords: 7q11.23; Williams-Beuren syndrome; intellectual disability; microduplication; multiplex ligation-dependent probe amplification; speech delay