GENETIC ANALYSIS OF PERIPHERAL BLOOD CELLS FOR SUSPECTED PATIENTS WITH GENETIC DISORDERS

Objective To analyze the chromosome structure of 1029 cases with suspected genetic disorders and provide the evidence for clinical diagnosis. Methods Lymphocytes of peripheral blood of the suspected patients seeking for advice were cultured and treated with G, chromosome banding techniques. The chromosome was investigated under a light microscope, a microphotography was done for abnormal chromosome. Results In 1029 cases investigated, 182 cases of chromosome aberration were discovered, the abnormality rate was 17.69%, in which 144 cases were somatic chromosome abnormalities(accounting for 13.99% of the total) , 46 sex chromosome abnormalities(4.18% of the total), and chromosome polymorphism, 104(10.11% of the total). Conclusion The incidence of chromosome abnormalities was higher among individuals with growth and development retardation, mental retardation, sex character abnormalities. It is necessary to identify the chromosome type of the individuals who seek for advice with above manifestations.