本文收集了7年间到我院小儿遗传咨询门诊诊治的患儿2089例。其中遗传性疾病1064例(50.9％),先天性神经系统发育不全884例(42.3％),其他疾病141例(6.8％).在遗传性疾病中,单基因遗传病有27种576例(54.2％),染色体异常有35种450例(42.3％),多基因遗传有3种11例,综合征有9种27例。咨询门诊常见疾病有10种1751例(83.8％)。遗传性疾病是防治工作的重点。 This article collected 2089 cases of pediatric genetic counseling outpatient treatment in our hospital in 7 years. There were 1064 cases (50.9%) of genetic diseases, 884 cases (42.3%) of congenital nervous system diseases and 141 cases (6.8%) of other diseases. Among the genetic diseases, there were 27 kinds of single-gene disease 576 cases %), There were 35 cases of 450 (42.3%) chromosomal abnormalities, 3 cases of polygenetic inheritance (11 cases) and 9 cases of syndrome (27 cases). There are 10 kinds of 1751 cases (83.8%) in consultation outpatient common diseases. Hereditary diseases are the focus of prevention and treatment.