title: [Molecular cytogenetics study in a case with unbalanced chromosome translocation].
abstract: OBJECTIVE
  To analyze the chromosome structural aberration in a case of unbalanced chromosome translocation by fluorescence in situ hybridization technique.
  
  
  METHODS
  The 1,18 whole chromosome specific painting probe were used to confirm chromosome abnormality suggested by high resolution G-banding examination.
  
  
  RESULTS
  An unbalanced translocation t(1;18)(q42;q22) was detected in the patient, which caused partial trisomy of 1q42-qter and partial monosomy of 18q22-qter.
  
  
  CONCLUSIONS
  The identified translocation suggested a potential site for congenital heart disease.
authors.affiliation: National Laboratory of Medial Genetics, Hunan Medical University, Changsha, Hunan, 410078 P.R. China. nlmglcy@public.cs.hn.cn
authors.forename: J
authors.initials: J
authors.lastname: Xia
authors.forename: Z
authors.initials: Z
authors.lastname: Yin
authors.forename: H
authors.initials: H
authors.lastname: Dai
authors.forename: Z
authors.initials: Z
authors.lastname: Xue
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: Q
authors.initials: Q
authors.lastname: Pan
authors.forename: L
authors.initials: L
authors.lastname: Ning
mesh_terms: D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014178:Translocation, Genetic