光谱核型分析联合微阵列比较基因组杂交诊断15号环状染色体综合征  

Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15

作　　者：潘敏[1] 蔡光伟[2] 廖灿[1] 刘子健[2] 

机构地区：[1]广州医学院附属广州市妇女儿童医疗中心产前诊断中心,510623 [2]香港中文大学威尔斯亲王医院妇产科系

出　　处：《中华医学遗传学杂志》2012年第5期562-565,共4页Chinese Journal of Medical Genetics

基　　金：广东省自然科学基金（9152408801000005）;广州市医药卫生科技项目（2008-YB-090）

摘　　要：目的探讨联合应用光谱核型分析技术（spectral karyotyping，SKY）和微阵列比较基因组杂交技术（microarray-based comparative genomic hybridization，array-CGH）在诊断复杂疑难的环状染色体畸变中的价值。方法对1例常规G显带染色体核型分析疑诊为46，XY，r（15）？的8岁男性生长发育迟缓患儿依次应用SKY及array-CGH技术常规进行制片杂交，并通过相应的显微摄像系统和计算机软件分析结果。结果SKY技术明确了该患儿环状染色体来源于15号染色体，array-CGH技术明确患儿15q26．3末端存在约594kb的缺失，染色体基因位点编码范围为99689349—100282878。结论联合应用现代分子细胞遗传学技术可以从细胞到分子水平精确诊断复杂疑难的环状染色体病例，是常规染色体核型分析的有益补充，也有利于细胞遗传学向分子水平深入。Objective To assess the value of spectral karyotyping （SKY） combined with microarray- based comparative genomic hybridization （array-CGH） for the diagnosis of complex ring chromosome aberration. Methods For an 8-year-old boy featuring growth retardation, G-banding analysis has indicated a 46,XY,r（15） ？ karyotype, which was delineated by SKY in combination with array-CGH. Results The ring chromosome has originated from chromosome 15 according to SKY analysis. Position of the breakpoint （15q26. 3 ） and a 594 kb deletion were revealed by array-CGH. Conclusion Molecular cytogenetic technologies are efficient tools for clarifying complex chromosomal abnormality, which has provided a powerful tool for conventional cytogenetic analysis.

关 键 词：15号环状染色体 微阵列比较基因组杂交技术 光谱核型分析技术 

分 类 号：R725.9[医药卫生—儿科]