[Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization].
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.
Kong
Hui
H
Xiamen's Prenatal Diagnosis, Xiamen Maternal & Child Health Care Hospital, Xiamen, Fujian, 361003 PR China.
Ge
Yun-sheng
YS
Wu
Qiong
Q
Wu
Hui-nan
HN
Zhou
Dong-xing
DX
Shen
Yan-yan
YY
Zheng
Yan-ling
YL
Cai
Mei-jiao
MJ
Li
Jian
J
Huang
Xin-li
XL
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