[Application of fluorescence in situ hybridization in the diagnosis of genetic diseases].

To determine the value of fluorescence in situ hybridization (FISH) to the diagnosis of chromosome abnormality in genetic diseases and prenatal diagnosis.
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.
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.
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.
AuthorsLi Zhao, Hong Li, Yong-quan Xue, Jin-lan Pan, Ya-fang Wu, Min Lu
JournalZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 21 Issue 6 Pg. 611-4 (Dec 2004) ISSN: 1003-9406 [Print] China
PMID15583994 (Publication Type: English Abstract, Journal Article)
  • Adult
  • Amniocentesis
  • Chromosome Aberrations
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence (methods)
  • Karyotyping
  • Male
  • Prenatal Diagnosis
  • Sex Chromosome Aberrations
  • Turner Syndrome (diagnosis)

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