The clinical application of spectral karyotyping in the analysis of chromosomal abnormalities.
- Author:
Qi-sang GUO
1
;
Yue-ping ZHANG
;
Xiao-tian LI
;
Jin-lan HAN
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Aberrations; Chromosome Banding; methods; Chromosome Disorders; diagnosis; genetics; Female; Humans; Pregnancy; Prenatal Diagnosis; methods; Reproducibility of Results; Sensitivity and Specificity; Spectral Karyotyping; methods
- From: Chinese Journal of Medical Genetics 2007;24(1):80-83
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.
METHODSA 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.
RESULTSTen 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.
CONCLUSIONSKY 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.
