[Application of spectral karyotyping in diagnosis of complex chromosome aberration].
OBJECTIVE
To determine the value of spectral karyotyping (SKY) to identify the complex chromosome aberration.


METHODS
Four cases were selected that can not be identified by standard cytogenetic techniques. The chromosome specimens were detected by the routine SKY method, and the results were analyzed by the SKY View software.


RESULTS
By using SKY a case of complex chromosome rearrangements and two cases of chromosome duplication were identified. However it could not identify the chromosome inversion and the breakpoint of chromosome aberration.


CONCLUSIONS
SKY may be a valuable tool in identification of complex chromosome translocation, rearrangement, minute aberration and unknown derivative chromosomes. Though SKY can not replace the standard cytogenetic techniques, but it will be the benefit supplementary.
Pan
Min
M
Birth Health Perinatal Medicine Institute, Women and Children Hospital of Guangzhou, Guangzhou Medical College, Guangzhou, Guangdong, 510180 P. R. China.
Liao
Can
C
Li
Dong-zhi
DZ
Yi
Cui-xing
CX
Yuan
Si-min
SM
D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D032681:Spectral Karyotyping / Q000379:methods*; D014178:Translocation, Genetic