title: [Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations].
abstract: OBJECTIVE
  To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.
  
  
  METHODS
  Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.
  
  
  RESULTS
  All of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.
  
  
  CONCLUSIONS
  Both array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.
authors.affiliation: Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Fuwei
authors.initials: F
authors.lastname: Luo
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Wubin
authors.initials: W
authors.lastname: Chen
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D014178:Translocation, Genetic