title: [Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Xiamen's Prenatal Diagnosis, Xiamen Maternal & Child Health Care Hospital, Xiamen, Fujian, 361003 PR China.
authors.forename: Hui
authors.initials: H
authors.lastname: Kong
authors.forename: Yun-sheng
authors.initials: YS
authors.lastname: Ge
authors.forename: Qiong
authors.initials: Q
authors.lastname: Wu
authors.forename: Hui-nan
authors.initials: HN
authors.lastname: Wu
authors.forename: Dong-xing
authors.initials: DX
authors.lastname: Zhou
authors.forename: Yan-yan
authors.initials: YY
authors.lastname: Shen
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Zheng
authors.forename: Mei-jiao
authors.initials: MJ
authors.lastname: Cai
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Xin-li
authors.initials: XL
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping