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Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-contparative genomic hybridization


, : Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-contparative genomic hybridization. Zhonghua Yixue Yichuanxue Zazhi 24(3): 256-260

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.

US$29.90

PMID: 17557232


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