荧光原位杂交法检测特纳氏综合征患者的微小标记染色体

Detection of small marker chromosome in patients with Turner's syndrome by flourescence in situ hybridization

目的确定特纳氏综合征（Turner's syndrom)患者微小标记染色体（Small marker chromosome,smr)的来源。方法用 Ｘ和Ｙ染色体着丝粒特异的ＤＮＡ探针进行荧光原位杂交（Fluorescence in situ bybridization,FISH)，检测３例核型为 ４５， Ｘ／４６， Ｘ＋smr的特纳氏综合征患者的smr。结果 ２例患者smr染色体来源于Ｙ染色体， １例来源于Ｘ染色体。结论 ＦＩＳＨ技术可快速准确鉴别微小标记染色体，对临床诊断和治疗方案的选择有重要指导作用。

Objective To identify the origin of small marker chromosome (smr) in the patients with Turner's syndrome. Method The small marker chromosome in 3 patients with Turner's syndrome, Whose karyotype was 45, X / 46, X+smr, was hybridized by centromere DNA probe of X and Y chromosome through fluorescence in situ hybridization (FISH). Results the small marker chromosome in 2 patients were derived from Y chromosome and in the other patient, it was from X chromosome. Conclusion FISH can be applied to detect small marker chromosome, which is important to clinical diagnosis and the choice of therapy.