title: [Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation].
abstract: OBJECTIVE
  To employ single nucleotide polymorphisms (SNP) microarray to detect copy number variations (CNVs) for the diagnosis of disease and molecular classification.
  
  
  METHODS
  For a patient with split-hand/split-foot malformation, genome-wide copy number variants SNP microarray was applied. Tiny copy number variations were verified by real-time fluorescent quantitative PCR.
  
  
  RESULTS
  The results of SNP microarray has revealed that the patient has carried a 0.39 Mb duplication in 10q24.31-24.32 (102 955 122-103 348 688), which has encompassed genes including LBX1, BTRC and POLL. By real-time fluorescent quantitative PCR, duplicate area encompassing the pathogenic genes have been verified. The results for LBX1, BTRC, POLL genes were all consistent with the SNP microarray test. Moreover, a duplication was detected in exon 9 of FBXW4 gene which is in nearby.
  
  
  CONCLUSIONS
  SNP chips can efficiently identify tiny CNVs (< 1.0 Mb). In combination with real-time fluorescence quantitative PCR, this may provide valuable information for prenatal diagnosis.
authors.affiliation: School of Laboratory Medicine, School of Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P. R. China. tsh006@163.com.
authors.forename: Yunying
authors.initials: Y
authors.lastname: Chen
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
authors.forename: Ting
authors.initials: T
authors.lastname: Hu
authors.forename: Jicheng
authors.initials: J
authors.lastname: Du
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D058674:Chromosome Duplication; D056915:DNA Copy Number Variations; D019951:DNA Polymerase beta / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics; D044844:beta-Transducin Repeat-Containing Proteins / Q000235:genetics
chemical_list: C471644:BTRC protein, human; D018398:Homeodomain Proteins; C542809:LBX1 protein, human; D014157:Transcription Factors; D044844:beta-Transducin Repeat-Containing Proteins; C415367:DNA polymerase beta2; D019951:DNA Polymerase beta