应用光谱核型分析技术诊断复杂染色体畸变

目的探讨光谱核型分析技术（spectral karyotyping，SKY）在诊断复杂染色体畸变中的应用价值。方法选取4例常规G显带染色体核型分析未能确诊的染色体畸变病例，按SKY操作常规进行制片杂交，并通过相应的计算机软件分析结果。结果通过SKY技术，明确1例涉及3条染色体复杂易位病例的诊断；协助2例不明来源衍生染色体诊断为染色体自身的部分重复；但对染色体自身倒位和染色体畸变断裂点的诊断帮助不大。结论SKY技术对于诊断复杂的染色体易位或重排、微小的染色体结构畸变以及不明来源的衍牛染色体等方面有较大的优越性．是常规染仁．体核型分析的有益补充。

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. Conclusion 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.