[天使综合征的基因诊断与产前诊断]
[Genetic diagnosis and prenatal diagnosis of Angelman syndrome].
作者信息
Wang Hui-lin, Liang De-sheng, Xia Yan, Xia Chun, Wu Ling-qian
机构信息
State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):511-3. doi: 10.3760/cma.j.issn.1003-9406.2009.05.006.
OBJECTIVE
To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).
METHODS
High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.
RESULTS
Two AS patients and 1 normal fetus in the family were successfully detected by FISH.
CONCLUSION
Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.
目的
评估传统细胞遗传学方法在以天使综合征（AS）先证者为家系的遗传诊断和产前诊断中的应用。
方法
对中期染色体进行高分辨率G显带核型分析和荧光原位杂交（FISH）。
结果
通过FISH在家系中成功检测出2例AS患者和1例正常胎儿。
结论
我们的结果表明，结合高分辨率G显带技术和FISH技术并辅以临床观察，可以检测出Ⅰ型AS患者，这将为遗传学家提供准确的遗传咨询信息，并为AS家系提供产前诊断。
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