title: [Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].
abstract: OBJECTIVE
  To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient.
  
  
  METHODS
  Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation.
  
  
  RESULTS
  The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents.
  
  
  CONCLUSIONS
  The mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.
authors.affiliation: Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China. Email: loveyuzhou1982@gmail.com.
authors.forename: Jiao
authors.initials: J
authors.lastname: Li
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.forename: Huayu
authors.initials: H
authors.lastname: Fu
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.forename: Zhou
authors.initials: Z
authors.lastname: Yu
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D018980:Williams Syndrome / Q000235:genetics*