title: [Detection of cryptic copy number variations in a fetus with congenital heart disease by array-based comparative genomic hybridization].
abstract: OBJECTIVE
  To detect the copy number variation (CNV) of a fetus with interrupted aortic arch and ventricular septal defect, in order to explore the underlying genetic causes of the congenital malformation, and investigate the feasibility of array-based comparative genomic hybridization (array-CGH) in molecular cytogenetic diagnosis.
  
  
  METHODS
  The whole genome of the fetus with de novo apparently balanced translocations [46,XX,t(7;9)(q12;q21)] diagnosed by G-banding was scanned and analyzed by array-CGH, and the copy number variation was confirmed by fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  A pathologic submicroscopic CNV [del(22) (q11.2) (17 370 128-19 790 009, -2.42 Mb)] was identified and mapped by array-CGH. FISH test confirmed the microdeletion detected by array-CGH.
  
  
  CONCLUSIONS
  The cryptic 22q11.2 deletion might be the reason leading to the congenital malformation of the fetus. This study provides evidence that apparently balanced translocations classified by conventional cytogenetic techniques may host additional submicroscopic CNVs which are not located at the breakpoints. Due to the high-resolution, high-throughput and high-accuracy, array-CGH is considered to be a powerful tool for submicroscopic CNVs detection.
authors.affiliation: Center for Prenatal Diagnosis, Nanjing Women and Children Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu, 210004 P. R. China. njxzf@126.com.
authors.forename: Ping
authors.initials: P
authors.lastname: HU
authors.forename: Yan
authors.initials: Y
authors.lastname: WANG
authors.forename: Xiu-qing
authors.initials: XQ
authors.lastname: JI
authors.forename: Ying
authors.initials: Y
authors.lastname: LIN
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: ZHOU
authors.forename: Jian
authors.initials: J
authors.lastname: CHEN
authors.forename: Ding-yuan
authors.initials: DY
authors.lastname: MA
authors.forename: Li
authors.initials: L
authors.lastname: CAO
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy