PMID- 17557232
OWN - NLM
STAT- MEDLINE
DCOM- 20090323
LR  - 20070608
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 24
IP  - 3
DP  - 2007 Jun
TI  - [Molecular and cytogenetic study on 18 cases of amenorrhea: the use of 
      fluorescence in situ hybridization and high resolution-comparative genomic 
      hybridization].
PG  - 256-60
AB  - OBJECTIVE: To explore the use of fluorescence in situ hybridization (FISH) and 
      high resolution-comparative genomic hybridization (HR-CGH) techniques in 
      amenorrhea study. METHODS: After 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. RESULTS: Among 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. CONCLUSION: 
      The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and 
      provide absolutely necessarily medical genetic data for clinical diagnosis and 
      therapy.
FAU - Kong, Hui
AU  - Kong H
AD  - Xiamen's Prenatal Diagnosis, Xiamen Maternal & Child Health Care Hospital, 
      Xiamen, Fujian, 361003 PR China.
FAU - Ge, Yun-sheng
AU  - Ge YS
FAU - Wu, Qiong
AU  - Wu Q
FAU - Wu, Hui-nan
AU  - Wu HN
FAU - Zhou, Dong-xing
AU  - Zhou DX
FAU - Shen, Yan-yan
AU  - Shen YY
FAU - Zheng, Yan-ling
AU  - Zheng YL
FAU - Cai, Mei-jiao
AU  - Cai MJ
FAU - Li, Jian
AU  - Li J
FAU - Huang, Xin-li
AU  - Huang XL
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  - Adult
MH  - Amenorrhea/diagnosis/*genetics/*pathology
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
EDAT- 2007/06/09 09:00
MHDA- 2009/03/24 09:00
CRDT- 2007/06/09 09:00
PHST- 2007/06/09 09:00 [pubmed]
PHST- 2009/03/24 09:00 [medline]
PHST- 2007/06/09 09:00 [entrez]
AID - 940624057 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):256-60.