title: [Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome].
abstract: OBJECTIVE
  To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.
  
  
  METHODS
  The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA).
  
  
  RESULTS
  Two submicroscopic CNVs [del(11)(q24.1-ter)(121951443-134449216, -12.50 Mb),dup(15)(q26.3)(96889082-100215359, -3.33 Mb)] were identified and mapped by array-CGH. MLPA test confirmed both CNVs.
  
  
  CONCLUSIONS
  Del (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus. For its high-resolution and high-accuracy, array-CGH has provided a powerful tool for detection of genomic imbalance.
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, People's Repulic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Ding-yuan
authors.initials: DY
authors.lastname: Ma
authors.forename: Yin-qiu
authors.initials: YQ
authors.lastname: Yang
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Zhou
authors.forename: Xiu-qing
authors.initials: XQ
authors.lastname: Ji
authors.forename: Jian
authors.initials: J
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Zheng-feng
authors.initials: ZF
authors.lastname: Xu
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D005260:Female; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods