PMID- 18841574
OWN - NLM
STAT- MEDLINE
DCOM- 20090325
LR  - 20081008
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 25
IP  - 5
DP  - 2008 Oct
TI  - [Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical 
      applications of fluorescence in situ hybridization(FISH) and BAC-FISH].
PG  - 570-2
AB  - 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. CONCLUSION: 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.
FAU - Wu, Qiong
AU  - Wu Q
AD  - Central Laboratory of Prenatal Diagnosis, Xiamen Maternal & Children's Hospital, 
      Xiamen, Fujian 361003, P.R. China.
FAU - Li, Jian
AU  - Li J
FAU - Wu, Huinan
AU  - Wu H
FAU - Zhou, Dongxing
AU  - Zhou D
FAU - Cai, Meijiao
AU  - Cai M
FAU - Shen, Yanyan
AU  - Shen Y
FAU - Yang, Chaoyi
AU  - Yang C
FAU - Ge, Yunsheng
AU  - Ge Y
FAU - Kong, Hui
AU  - Kong H
FAU - Huang, Xingli
AU  - Huang X
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Adolescent
MH  - Chromosomes, Artificial, Bacterial/*genetics
MH  - Gonadal Dysgenesis/diagnosis/*genetics/pathology/therapy
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Sex Chromosome Aberrations
EDAT- 2008/10/09 09:00
MHDA- 2009/03/26 09:00
CRDT- 2008/10/09 09:00
PHST- 2008/10/09 09:00 [pubmed]
PHST- 2009/03/26 09:00 [medline]
PHST- 2008/10/09 09:00 [entrez]
AID - 940625124 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):570-2.