[Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH].
OBJECTIVE
To explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.


METHODS
After 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.


RESULTS
Among 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.


CONCLUSIONS
Sex 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.
Wu
Qiong
Q
Central Laboratory of Prenatal Diagnosis, Xiamen Maternal & Children's Hospital, Xiamen, Fujian 361003, P.R. China.
Li
Jian
J
Wu
Huinan
H
Zhou
Dongxing
D
Cai
Meijiao
M
Shen
Yanyan
Y
Yang
Chaoyi
C
Ge
Yunsheng
Y
Kong
Hui
H
Huang
Xingli
X
D000293:Adolescent; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations