[The clinical application of spectral karyotyping in the analysis of chromosomal abnormalities].
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.
Guo
Qi-sang
QS
Department of Obstetrics, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, PR China.
Zhang
Yue-ping
YP
Li
Xiao-tian
XT
Han
Jin-lan
JL
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*