作者对2o18例遗传咨询门诊患者进行外周血染色体检查，发现染色体异常核型196例，异常核型检出率9．17％，常染色体数目异常81例占41．3％，常染色体结构异常34例占17．3％，性杂色体数目异常41例，占2o.9％，性染色体结构异常3例占1．5％，性杂色体嵌合作19例占9．7％.性别表型异常8例占4．1％，其中8例为世界首报异常核型。准确的细胞遗传学分析是对染色体病的诊断和对携带者进行产前诊断的重要依据。 The author of 2o18 cases of genetic counseling clinic patients with peripheral blood chromosomal examination found 196 cases of chromosomal abnormalities karyotype, abnormal karyotype detection rate of 9.17%, 81 cases of an autosomal abnormalities accounted for 41.3%, autosomal abnormalities 34 Cases accounted for 17.3%, 41 cases of abnormal number of chromosomal abnormalities, accounting for 2o.9%, 3 cases of sex chromosome abnormalities accounted for 1.5%, 19 cases of sexually transmitted chromosomal mosaicism accounted for 9.7%. 8 cases accounted for 4.1% of abnormalities, of which 8 cases of the world’s first reported abnormal karyotype. Accurate cytogenetic analysis is an important basis for the diagnosis of chromosomal diseases and prenatal diagnosis of carriers.