Suppr超能文献

一家遗传咨询诊所的病例。

Cases of a Genetic Counselling Clinic.

作者信息

Czeizel A, Métneki J, Osztovics M

出版信息

Acta Paediatr Acad Sci Hung. 1980;21(1):33-54.

PMID:7446086
Abstract

The 1973--1978 material of the Genetic Counselling Clinic, National Institute of Hygiene in Budapest 1973--1978 consists of 3778 counselees. Based on the disorders of probands, 15 nosological categories are differentiated. The theoretical expectations based on the occurrence of monolocal, chromosomal and multifactorial disorders were compared with the observed experience. Obviously, the occurrence of abnormality is not what primarily motivates the consultation; the severity (mainly the lethality), early manifestation (e.g. of congenital abnormalities) and the preventive programs are more important factors in seeking genetic counselling.

摘要

布达佩斯国立卫生研究院遗传咨询诊所1973 - 1978年的资料包括3778名咨询者。根据先证者的病症,区分出15种疾病分类。将基于单基因、染色体和多因素疾病发生情况的理论预期与观察到的经验进行了比较。显然,异常的发生并非促使咨询的主要因素;严重程度(主要是致死率)、早期表现(如先天性异常)和预防方案是寻求遗传咨询时更重要的因素。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验