Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2007
[Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization].
Аннотация на английскомСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
OBJECTIVE: To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.