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目的 用分子细胞遗传学技术鉴别常规细胞遗传学难以确定的染色体异常。方法 用染色体涂染、比较基因组杂交(com parative genom ic hybridization,CGH)和多色显带分析技术(colorbandingchrom osom e analysis,RxFISH),对一例G 显带提示为9 号染色体结构异常的病例进行研究。结果 患儿核型为46,XX,9p+ ,染色体涂染显示两条9 号染色体(包括短臂额外片段)被均匀涂染,CGH 和RxFISH证实为9 号短臂完全重复,核型准确描述为46,XX,dup 9p(p11→p24∷p24→qter)。结论 这些技术手段可以鉴别常规细胞遗传学难以进行诊断的、复杂的染色体结构异常,在基础及临床医学研究领域中,有着重要的应用前景
Objective To identify chromosomal abnormalities that are difficult to determine by conventional cytogenetics using molecular cytogenetics. Methods A case of G-banding suggestive of structural abnormality on chromosome 9 was studied by chromosome painting, com- parative genom ic hybridization (CGH) and color banding analysis (RxFISH) . Results Karyotype was 46, XX, 9p +. Chromosomal staining showed that two chromosomes 9 (including extra-jibs) were evenly coated. CGH and RxFISH confirmed complete repetition of the 9-short arm. The karyotypes were accurately described as 46, XX, dup 9p (p11 → p24 :: p24 → qter). Conclusion These techniques can identify complex chromosomal abnormalities that are difficult to diagnose in conventional cytogenetics and have important applications in the fields of basic and clinical medicine