The clinical application of spectral karyotyping in the analysis of chromosomal abnormalities / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>