title: [The clinical application of spectral karyotyping in the analysis of chromosomal abnormalities].
abstract: OBJECTIVE
  To evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.
  
  
  METHODS
  A total of 17 metaphase chromosome samples were investigated by SKY, including 10 normal and 5 balanced translocation samples of peripheral blood lymphocytes, one der(Y) sample of peripheral blood lymphocytes and one marker chromosome sample of amniotic fluid cells. The results were compared with those of G-banding diagnosis.
  
  
  RESULTS
  Ten normal and 5 balanced translocation samples were diagnosed successfully by SKY in accordance with the results of G-banding; furthermore, SKY analysis revealed that the der(Y) fragment originated from p-arm of chromosome 21 while the marker chromosome originated from chromosome 5.
  
  
  CONCLUSIONS
  SKY is a very sensitive and specific whole genome analysis tool for chromosomal abnormality diagnosis, and exceedingly valuable in the diagnosis on complex chromosomal abnormalities that can not be determined by G-banding.
authors.affiliation: Department of Obstetrics, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, PR China.
authors.forename: Qi-sang
authors.initials: QS
authors.lastname: Guo
authors.forename: Yue-ping
authors.initials: YP
authors.lastname: Zhang
authors.forename: Xiao-tian
authors.initials: XT
authors.lastname: Li
authors.forename: Jin-lan
authors.initials: JL
authors.lastname: Han
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D032681:Spectral Karyotyping / Q000379:methods*