2089例小儿遗传咨询分析

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。

GENETIC COUNSELLING ANALYSIS OF 2089 CHILDREN

We have collected 2 089 children who came to our genetic conselling clinic in order to be diagnosed and treated during the past seven years. Among of them, 1 064 individuals (50. 9%) were diagnosed as genetic disease,884 individuals (42. 3%) as congential hypoplasia of nervous system, 141 individuals (6. 8%) as the other diseases. Among the groups of genetic disease,there were 27 kinds of gene genetic disease(576 individuals,54. 2%),35 kinds of chromosomal abnormal disease (450 individuals,42. 3%), 3 kinds of multiple gene genetic disease (11 individuals 1%),9 kinds of syndrome (27 individuals,2. 5%) according to the etiological classification. There were 10 kinds of commonly encountered disease in our counselling clinic (1 751 individuals 83. 8%). the results showed that genetic disease is the focal point of prevention and treatment work. .