Application of spectral karyotyping in diagnosis of complex chromosome aberration / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To determine the value of spectral karyotyping (SKY) to identify the complex chromosome aberration.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>