5例性腺发育不全的分子与细胞遗传学研究：荧光原位杂交（FISH）及细菌人工染色体荧光原位杂交（BAC-FISH）的临床应用
[Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH].
作者信息
Wu Qiong, Li Jian, Wu Huinan, Zhou Dongxing, Cai Meijiao, Shen Yanyan, Yang Chaoyi, Ge Yunsheng, Kong Hui, Huang Xingli
机构信息
Central Laboratory of Prenatal Diagnosis, Xiamen Maternal & Children's Hospital, Xiamen, Fujian 361003, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):570-2.
OBJECTIVE
To explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.
METHODS
After routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.
RESULTS
Among the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.
CONCLUSION
Sex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.
目的
探讨荧光原位杂交（FISH）技术在性腺发育不全患者诊断中的应用。
方法
对5例性腺发育不全及性腺功能减退患者进行常规妇科检查、超声检查及内分泌检查后，采用包括G显带、Q显带、多重FISH及BAC-FISH分析在内的染色体诊断方法进行分析。
结果
5例性腺发育不全患者中，2例为46, XY核型的单纯性腺发育不全，3例为mos 45, X/47, XXX；45, X/46, XY或46, X, der(Y)核型的混合性性腺发育不全。
结论
性染色体异常导致性腺发育不全症状。FISH及BAC-FISH分析技术的应用能够正确诊断性腺发育不全患者的性染色体异常情况，为临床诊断及治疗提供准确的医学遗传学数据。
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