The Application Of Fluorescence In Situ Hybridization Technology (FISH) To The Diagnosis Of Chromosome Abnormality In Genetic Diseases And Prenatal Diagnosis

Objective: To evaluate the value of fluorescence in situ hybridization technology (FISH) to the diagnosis of chromosome abnormality in genetic diseases and prenatal diagnosis.Method: Appropriate fluorescence labeled probes (including a-satellitesDNA probe, chromosome sequence specific probe and whole chromosome painting probe) were used to hybridize with blood samples from 36 patients who were suspected having chromosome abnormality byconventional cytogenetics(CC) and amnio fluid cells from 57 pregnant women with high risk.Results: Among 36 patients, the karyotypes 45, X[10cases], 45, X/46, XX[3 cases ], 45, X/46, Xr (X) [leases], 46, X, i(Xq)[leases], 47, XXY[13cases] , 47, XYY[2cases] 47, XXX[leases], 46, XX, t(4;7)[lcases], 47, XXY, inv( 7) [ 1 cases] 46, XY, inv(7)[leases],47, XX, +21[1 cases] , 47, XX, +mark[ leases] were detected by FISH. Among the 57 pregnant women, three fetus with chromosome abnormality were diagnosed by FISH, the karyotypes are 47, XX, +18; 46,XY;( Y); 46,XY,t(Y; 15) respectively.Conclusion: (1) Some chromosome abnormalities can be detected preciselyand rapidly by FISH. (2)The detection rate of chromosome abnormality isimproved by FISH. (3) FISH is a necessary complement to the conventionalcytogenetics.