title: [Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by multiple ligation-dependent probe amplification assay].
abstract: OBJECTIVE
  To evaluate multiplex ligation-dependent probe amplification (MLPA) assay detection in analysis of chromosome 22q11.2 microdeletion.
  
  
  METHODS
  Between March 2008 and September 2009, thirty-two patients including 10 males and 16 females aged between years (3.6±3.1) were selected and evaluated by history, physical examination and medical records. Of these patients, sixteen patients who were previous diagnostic as 22q11.2 microdeletion were in positive control group, the other 16 healthy children were in negative control group. All the patients were detected by MLPA and fluorescence in situ hybridization (FISH) for the presence of a 22q11.2 microdeletion after informed consent. Diagnostic efficacy was assessed by sensitivity, specificity and Kappa analysis.
  
  
  RESULTS
  We have applied the two assays of detection of chromosome 22q11.2 microdeletion in 32 patients. Sixteen patients in positive control group were found to have a 22q11.2 deletion and, with the deletion size of 3-Mb. However, as expected, chromosome 22q11.2 deletion was not found in negative control group. The MLPA results were in good agreement with that by FISH. Therefore, MLPA has high sensitivity and specificity.
  
  
  CONCLUSIONS
  MLPA is a rapid, reliable, high-throughput and relatively economical alternative to FISH technology for the diagnosis of 22q11.2 microdeletion. It can provide reliable and helpful information for clinical diagnosis of 22q11.2 microdeletion syndrome.
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310003 P. R.China.
authors.forename: Jian-ying
authors.initials: JY
authors.lastname: DENG
authors.forename: Ze-wei
authors.initials: ZW
authors.lastname: ZHANG
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: LI
authors.forename: Yu-ning
authors.initials: YN
authors.lastname: ZHU
authors.forename: Jian-bin
authors.initials: JB
authors.lastname: YANG
authors.forename: Zhan
authors.initials: Z
authors.lastname: GAO
authors.forename: Li-yang
authors.initials: LY
authors.lastname: YING
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D012680:Sensitivity and Specificity