染色体病是染色体结构和数目异常所致的遗传性疾病。我国开展染色体病的研究起步较晚，但是发展迅速。在５０年代以来有了新的突破，确定了人体二倍体细胞的染色体数目为４６，６０年代建立了细胞培养和外周血染色体培养技术，７０年代初建立了染色体显带技术，８０年代初建立 Chromosomal disease is a genetic disease caused by abnormalities in the structure and number of chromosomes. The research on chromosome disease in our country started later, but it developed rapidly. Since the 1950s, a new breakthrough has been made in determining the number of chromosomes in human diploid cells to be 46 and 60. Cell culture and peripheral blood chromosomal culture techniques were established. In the early 1970s, chromosome banding technology was established and was established in the early 1980s