Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization.
- Author:
Hui KONG
1
;
Yun-sheng GE
;
Qiong WU
;
Hui-nan WU
;
Dong-xing ZHOU
;
Yan-yan SHEN
;
Yan-ling ZHENG
;
Mei-jiao CAI
;
Jian LI
;
Xin-li HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Amenorrhea; diagnosis; genetics; pathology; Chromosome Aberrations; Chromosomes, Human; genetics; Comparative Genomic Hybridization; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping
- From: Chinese Journal of Medical Genetics 2007;24(3):256-260
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.
METHODSAfter 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.
RESULTSAmong 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.
CONCLUSIONThe using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.
