Kong Hui, Ge Yun-sheng, Wu Qiong, Wu Hui-nan, Zhou Dong-xing, Shen Yan-yan, Zheng Yan-ling, Cai Mei-jiao, Li Jian, Huang Xin-li
Xiamen's Prenatal Diagnosis, Xiamen Maternal & Child Health Care Hospital, Xiamen, Fujian, 361003 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):256-60.
To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.
After routine gynecologic examination, ultrasonography and endocrine examination, 17 cases of primary amenorrhea and 1 case of secondary amenorrhea were analysed by using chromosomal diagnoses including multiplex FISH and HR-CGH analyses.
Among 17 cases of primary amenorrhea, 7 revealed a 46,XX karyotype; 10 cases (58.8%) had abnormal karyotype, including 3 cases of 46,XY females, 2 cases of Turner's syndrome with 45,X and 45,X/46,XX, and other 5 cases with abnormal structure of X chromosome (including partial monosomy of X,X isochromosome and X/Y mosaic). The karyotype of the patient with secondary amenorrhea was translocation between X chromosome and euchromosome.
The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.
探讨荧光原位杂交（FISH）和高分辨率比较基因组杂交（HR-CGH）技术在闭经研究中的应用。
对17例原发性闭经患者和1例继发性闭经患者进行常规妇科检查、超声检查及内分泌检查后，采用包括多重FISH和HR-CGH分析在内的染色体诊断方法进行分析。
17例原发性闭经患者中，7例核型为46,XX；10例（58.8%）核型异常，其中包括3例46,XY女性、2例特纳综合征（45,X及45,X/46,XX）以及其他5例X染色体结构异常（包括X部分单体、X等臂染色体及X/Y嵌合体）。继发性闭经患者的核型为X染色体与常染色体之间的易位。
FISH和HR-CGH的应用能够正确诊断患者的核型，为临床诊断和治疗提供绝对必要的医学遗传学数据。
