PMID- 15583994
OWN - NLM
STAT- MEDLINE
DCOM- 20050817
LR  - 20061115
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 21
IP  - 6
DP  - 2004 Dec
TI  - [Application of fluorescence in situ hybridization in the diagnosis of genetic 
      diseases].
PG  - 611-4
AB  - OBJECTIVE: To determine the value of fluorescence in situ hybridization (FISH) to 
      the diagnosis of chromosome abnormality in genetic diseases and prenatal 
      diagnosis. METHODS: FISH was performed using appropriate probes, including 
      alpha-satellite DNA probe, chromosome sequence specific probe and whole 
      chromosome painting probe, to examine the blood samples from 36 patients who were 
      suspected of having chromosome abnormality by conventional cytogenetics, and to 
      examine the amniocytes from 45 pregnant women who were in need of prenatal 
      diagnosis. RESULTS: Among 36 patients, the following karyotypes 45, X; 45, X/46, 
      XX; 45, X/46, Xr(X); 46, X, i(Xq); 47, XXY; 46, XX, t(4;7); 47, XYY; 47, XXX; 47, 
      XXY, inv(7); 46, XY, inv(7); 47, XX, +21 were detected by FISH. Of the fetuses of 
      the 45 pregnant women, two fetuses with chromosomal abnormalities were diagnosed 
      by FISH; the karyotypes were 47, XX, +18 and 46, XY, der(15) t(Y;15) 
      respectively. CONCLUSION: FISH can precisely and rapidly detect the chromosome 
      abnormalities. It is a complement to the conventional cytogenetics and can be 
      widely used in the diagnosis of genetic diseases and prenatal diagnosis.
FAU - Zhao, Li
AU  - Zhao L
AD  - Department of Obstetrics and Gynecology, the First Hospital of Soochow 
      University, Suzhou, Jiangsu, 215006 P. R. China.
FAU - Li, Hong
AU  - Li H
FAU - Xue, Yong-quan
AU  - Xue YQ
FAU - Pan, Jin-lan
AU  - Pan JL
FAU - Wu, Ya-fang
AU  - Wu YF
FAU - Lu, Min
AU  - Lu M
LA  - chi
PT  - English Abstract
PT  - Journal Article
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  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - *Prenatal Diagnosis
MH  - Sex Chromosome Aberrations
MH  - Turner Syndrome/*diagnosis
EDAT- 2004/12/08 09:00
MHDA- 2005/08/18 09:00
CRDT- 2004/12/08 09:00
PHST- 2004/12/08 09:00 [pubmed]
PHST- 2005/08/18 09:00 [medline]
PHST- 2004/12/08 09:00 [entrez]
AID - 940621152 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Dec;21(6):611-4.