Cytogenetical analysis on 131 cases with chromosomal abnormality in Guizhou province

Objective:To conduct cytogenetical analysis among 131 cases with chromosomal abnormality in Guizhou province,direct prenatal and postnatal care.Methods:The cases received medical history inquiry,physical examination,culture of lymphocytes in venous blood,metaphase chromosome section and G-banding;30 karyotypes were counted under microscope respectively,more than 3 karyotypes were analyzed;for the cases with abnormal results,the karyotypes amounts of count and analysis were increased,then naming was carried out according to ISCN(1985).Results:Among 131 cases with chromosomal abnormality,97 cases were found with numerical abnormality and structural abnormality of autosome,accounting for 74.05%;30 cases were found with numerical abnormality and structural abnormality of sex chromosome,accounting for 22.9%;4 cases were found with chromosomal polymorphism,accounting for 3.1%.Conclusion:Chromosomal abnormality is related to adverse history of pregnancy,infertility,hypophrenia,sexual developmental abnormality and primary amenorrhea closely.Genetic counselling before pregnancy and understanding chromosomal abnormality timely play important roles in direction of clinical treatment,prenatal and postnatal care.