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

摘要

Objective To assess the value of spectral karyotyping (SKY) combined with microarraybased 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.%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594 kb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.