These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Application of fluorescence in situ hybridization in the diagnosis of genetic diseases].
    Author: Zhao L, Li H, Xue YQ, Pan JL, Wu YF, Lu M.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):611-4. PubMed ID: 15583994.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]