title: [Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
abstract: OBJECTIVE
  To establish a method of multiplex ligation-dependent probe amplification (MLPA) for clinical screening of Williams syndrome (WS) and for routine use in WS diagnosis.
  
  
  METHODS
  Probes for MLPA were designed according to the frequent deletion regions, and used to screen the two patients suspected with Williams syndrome, and the density of the bands were analyzed with software. Linkage analysis using polymorphic markers was performed to confirm the positive result of MLPA.
  
  
  RESULTS
  The MLPA data indicated that the two children had possible microdeletions in the WS critical region. The deletions were confirmed and both were maternal origin by polymorphism analysis.
  
  
  CONCLUSIONS
  MLPA is a quick and convenient method for detecting deletion or duplication mutations. It can provide reliable and helpful information for clinical diagnose of Williams syndrome.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing, 100005 P.R. China.
authors.forename: Yuan-yuan
authors.initials: YY
authors.lastname: Peng
authors.forename: Yan
authors.initials: Y
authors.lastname: Meng
authors.forename: Zheng-qing
authors.initials: ZQ
authors.lastname: Qiu
authors.forename: Ou
authors.initials: O
authors.lastname: Wang
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
mesh_terms: D002648:Child; D006801:Humans; D022521:Ligase Chain Reaction / Q000379:methods*; D008297:Male; D015345:Oligonucleotide Probes / Q000235:genetics; D017384:Sequence Deletion; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D015345:Oligonucleotide Probes