title: [Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting].
abstract: OBJECTIVE
  To explore the value of multiplex fluorescence in situ hybridization (M-FISH) in combination with whole chromosome painting (WCP) in the detection of complex chromosomal aberrations (CCAs) in myelodysplastic syndromes (MDS).
  
  
  METHODS
  M-FISH was used in seven MDS patients with R-banding CCAs to refine the complex chromosomal rearrangements, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH.
  
  
  RESULTS
  M-FISH confirmed all results of R-banding. The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by conventional cytogenetics (CC) were defined after M-FISH analysis; four kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 and -5/5q- were the two most frequent aberrations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP.
  
  
  CONCLUSIONS
  M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helps us to identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques, such as M-FISH and WCP, can unravel complex chromosomal aberrations more precisely.
authors: Deartment of Hematology, the First Affiliated Hospital, Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029 PR China.
authors: Li-juan
authors: LJ
authors: Chen
authors: Jian-yong
authors: JY
authors: Li
authors: Bing
authors: B
authors: Xiao
authors: Yu
authors: Y
authors: Zhu
authors: Qiong
authors: Q
authors: Liu
authors: Jin-lan
authors: JL
authors: Pan
authors: Hai-rong
authors: HR
authors: Qiu
authors: Lei
authors: L
authors: Fan
authors: Su-jiang
authors: SJ
authors: Zhang
authors: Rui-nan
authors: RN
authors: Lu
authors: Wei
authors: W
authors: Xu
authors: Yong-quan
authors: YQ
authors: Xue
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D020223:Chromosome Painting / Q000379:methods*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D055815:Young Adult