成骨不全症的遗传咨询质量。
The quality of genetic counselling in osteogenesis imperfecta.
作者信息
Paterson C R, Mowat E
出版信息
Postgrad Med J. 1981 Jul;57(669):416-8. doi: 10.1136/pgmj.57.669.416.
Abstract
A survey is reported of the genetic advice given to 272 families with osteogenesis imperfecta. An appreciable number of families were not given advice by anyone even though they had asked for it, and only one quarter of the families had been referred to a clinical genetic specialist. Overall approximately one third of the information recollected as having been received was incorrect but genetic specialists were clearly more successful than other doctors.
摘要
本文报道了一项针对272个成骨不全家庭所提供的遗传咨询的调查。相当数量的家庭尽管寻求了遗传咨询，但并未得到任何人的建议，只有四分之一的家庭被转介给临床遗传专家。总体而言，回忆所获得的信息中约有三分之一是错误的，但遗传专家显然比其他医生更成功。
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本文引用的文献
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Lancet. 1980 Apr 12;1(8172):820-1. doi: 10.1016/s0140-6736(80)91313-6.
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Genetic heterogeneity in osteogenesis imperfecta.成骨不全症中的遗传异质性。
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