title: [Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].
abstract: OBJECTIVE
  To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.
  
  
  METHODS
  Routine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  No karyotypic abnormality was detected upon chromosome analysis. However, SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23, which has been associated with Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing.
  
  
  CONCLUSIONS
  A child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical manifestation of the patient. Compared with routine karyotype analysis, SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.
authors.affiliation: Prenatal Diagnosis Center, Maternity and Child Health Hospital, Jiaxing, Zhejiang 314000, P. R. China. mzy2005@hotmail.com.
authors.forename: Yuxia
authors.initials: Y
authors.lastname: Jin
authors.forename: Xia
authors.initials: X
authors.lastname: Liu
authors.forename: Suping
authors.initials: S
authors.lastname: Li
authors.forename: Jiamei
authors.initials: J
authors.lastname: Ge
authors.forename: Xiufang
authors.initials: X
authors.lastname: Wu
authors.forename: Qinhao
authors.initials: Q
authors.lastname: Song
authors.forename: Chiyan
authors.initials: C
authors.lastname: Zhou
authors.forename: Zhengyou
authors.initials: Z
authors.lastname: Miao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*