目的了解１５年来住院儿童遗传病概况。方法对１９８３～１９９７年１２７７５７例住院病例进行了回顾性分析。结果遗传病６４５１例，占住院病例的５０５％，男女之比为１１２∶１。其中染色体病１００例（００８％），单基因病２０４６例（１６０％），多基因病（遗传度≥７０％）４３０５例（３３７％）。住院儿童遗传性疾病检出率９０年代较８０年代显著增加（Ｐ＜００１）。小儿遗传病可见于任何年龄组，但某些病种有其相对集中的发病年龄，死亡年龄高峰在新生儿期，某些疾病病死率高达３０％以上。结论目前优生工作的重点仍应放在预防劣生上，有必要强调儿科医师研究临床遗传学的重要性 Objective To understand the general situation of hospitalized children’s genetic diseases in 15 years. Methods A total of 127 757 inpatients from 1983 to 1997 were retrospectively analyzed. Results 6451 cases of genetic disease, accounting for 5  05% of hospitalized cases, male to female ratio was 1  12: 1. Among them, there were 100 cases (008%) of chromosomal diseases, 2046 cases (160%) of single gene diseases, and 4305 cases (337%) of polygenetic diseases (≥70%). The prevalence of hereditary diseases in hospitalized children in the 1990s was significantly higher than that in the 1980s (P <001). Pediatric genetic disease can be seen in any age group, but some of the disease has its relative concentration of the age of onset, the peak age of death in the neonatal period, the mortality rate of some diseases as high as 30%. Conclusion At present, the focus of eugenics work should still be placed on the prevention of bad habits. It is necessary to emphasize the importance of pediatricians in studying clinical genetics