目的为了降低出生缺陷,提高出生人口素质,探讨不良生育史和生长发育不良等情况与染色体异常的关系。方法对3869例遗传咨询者进行外周血染色体检查。结果共有249例染色体异常,阳性率为6.4%,易位和性染色体异常是最常见的染色体异常类型。结论染色体异常是造成生长发育异常、自然流产、不育不孕、月经不调、生育畸胎与智碍儿的重要原因之一。 Objective To reduce the birth defects and improve the quality of the birth population, to explore the relationship between poor birth history and growth and development and chromosomal abnormalities. Methods 3869 cases of genetic counseling for peripheral blood chromosome examination. Results A total of 249 cases of chromosomal abnormalities, the positive rate was 6.4%, translocations and sex chromosome abnormalities is the most common type of chromosomal abnormalities. Conclusion Chromosomal abnormalities are one of the important causes of abnormal growth and development, spontaneous abortion, infertility, irregular menstruation, fertility teratogenicity and mental retardation.