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

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。

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

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.