title: An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.
abstract: BACKGROUND
  Interstitial Xp duplications have been rarely described, especially in males. Male patients show intellectual deficiency (ID) and variable congenital malformations depending on the size and the position of the duplication.
  
  
  METHODS
  Cytogenetic and molecular analyses using standard G-banding, R-banding, fluorescence in situ hybridization, and an array comparative genomic hybridization analysis for copy number variation detection were performed in the propositus and his mother.
  
  
  RESULTS
  A 12,168,283 bp interstitial duplication of the Xp21.3p11.4 region was detected in the boy with ID and speech delay and his asymptomatic mother.
  
  
  CONCLUSIONS
  An Xp21.3p11.4 duplication was characterized at the molecular level in a boy with ID and speech delay. Genotype-phenotype correlations of interstitial Xp duplications were performed by comparing previously reported cases and our patient.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Weigang
authors.initials: W
authors.lastname: Lv
authors.forename: Juan
authors.initials: J
authors.lastname: Wen
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D008297:Male; D009035:Mothers; D012729:Sex Chromosome Aberrations
keywords: FISH; SNP array; copy number variation analysis; interstitial Xp duplication; speech delay