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采用外周血淋巴细胞制备染色体及核型分析技术，对３０１６例咨询者进行了染色体检查，结果显示：异常核型１６５例，异常检出率５．４７％。异常核型中以１５岁以下和２２－３５岁年龄组所占比例最高，分别为３４．５５％和５０．９１％。异常核型涉及到三体型、单体型、罗伯逊易位、相互易位、不平衡重排、脆性Ｘ染色体及嵌合体，其中世界首报核型２例；探讨分析了异常染色体的来源及与临床表现的相关性，说明染色体异常是引起妊娠胎儿丢失和先天畸形的重要原因。
Chromosome and karyotyping techniques were used to prepare chromosomes and karyotypes in peripheral blood lymphocytes. Chromosome examination was performed on 3,016 consultants. The results showed that there were 165 abnormal karyotypes with an abnormality rate of 5.47%. The abnormal karyotypes accounted for the highest proportion in the age group of 15 years and 22-35 years old, 34.55% and 50.91% respectively. Abnormal karyotypes involved trisomy, haplotype, Robertsonian translocation, mutual translocation, unbalanced rearrangement, fragile X chromosomes and chimeras, of which the world’s first reported karyotype in 2 cases; analyzed the source of abnormal chromosomes and Correlation of clinical manifestations, indicating that chromosomal abnormalities is caused by fetal loss of pregnancy and birth an important cause of birth defects.