为残疾离校学生提供遗传咨询。
Genetic counselling for handicapped school leavers.
作者信息
Vowles M
出版信息
J Med Genet. 1981 Oct;18(5):350-8. doi: 10.1136/jmg.18.5.350.
A total of 287 school leavers with 299 unassociated handicaps from seven special schools for physically handicapped, visually handicapped, and deaf children were given genetic counselling from 1973 to 1979. The practical aspects of running this project are described. The risks needed were those of having an affected child: 54 (18.8%) were given a high risk (greater than 1 in 10), 89 (31.0%) were given a moderate risk (1 in 10 to 1 in 40), 69 (24.0%) were given a low risk (less than 1 in 40), and 83 (28.5%) were told that risk was the same as that of general population. Of the 299 total handicaps, 25 (8.4%) were thought to be autosomal dominant conditions, 38 (12.7%) to be autosomal recessive conditions, and 8 (2.7%) to be X linked conditions. Empirical risks were given for 145 (48.5%) diagnoses, and general population risks for the remaining 83 (27.7%).
1973年至1979年期间，来自7所分别针对肢体残疾、视力残疾和失聪儿童的特殊学校的287名离校学生，共患有299种互不相关的残疾，他们都接受了遗传咨询。本文描述了开展该项目的实际情况。所需评估的风险是生育患病子女的风险：54人（18.8%）被评估为高风险（大于十分之一），89人（31.0%）被评估为中度风险（十分之一至四十分之一），69人（24.0%）被评估为低风险（小于四十分之一），83人（28.5%）被告知风险与普通人群相同。在这299种残疾中，25种（8.4%）被认为是常染色体显性遗传病，38种（12.7%）是常染色体隐性遗传病，8种（2.7%）是X连锁遗传病。145种（48.5%）诊断给出了经验性风险，其余83种（27.7%）给出了普通人群风险。
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