[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.
Central Laboratory of Prenatal Diagnosis, Xiamen Maternal & Children's Hospital, Xiamen, Fujian 361003, P.R. China.
Qiong
Q
Wu
Jian
J
Li
Huinan
H
Wu
Dongxing
D
Zhou
Meijiao
M
Cai
Yanyan
Y
Shen
Chaoyi
C
Yang
Yunsheng
Y
Ge
Hui
H
Kong
Xingli
X
Huang
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