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遗传咨询与儿科医生。

Genetic counseling and the pediatrician.

作者信息

Bartsocas C S

出版信息

Paediatrician. 1978;7(6):286-304.

PMID:155240
Abstract

The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis.

摘要

在诊断出儿童患有遗传疾病后,儿科医生对其家庭的帮助如今在于提供遗传咨询,以预防未来妊娠中疾病的复发。一旦做出正确诊断,就孟德尔遗传而言,遗传咨询过程应该并不困难。众所周知,几种染色体疾病遵循孟德尔遗传规律。多基因或多因素遗传理论可能会在准确估计风险方面产生问题。人们努力去发现遗传“易感性”的机制或不利的环境因素,以尽量减少此类疾病的发生。在遗传咨询中应该提到的预防几种遗传疾病的一个重要工具是产前诊断。

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