Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH.
- Author:
Qiong WU
1
;
Jian LI
;
Huinan WU
;
Dongxing ZHOU
;
Meijiao CAI
;
Yanyan SHEN
;
Chaoyi YANG
;
Yunsheng GE
;
Hui KONG
;
Xingli HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Chromosomes, Artificial, Bacterial; genetics; Gonadal Dysgenesis; diagnosis; genetics; pathology; therapy; Humans; In Situ Hybridization, Fluorescence; methods; Karyotyping; Male; Sex Chromosome Aberrations
- From: Chinese Journal of Medical Genetics 2008;25(5):570-572
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.
METHODSAfter routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.
RESULTSAmong the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.
CONCLUSIONSex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.
