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在一家儿童医院基因诊所工作六年的经验。

Six years' experience in a children's hospital genetic clinic.

作者信息

Zieff S, Nelson M M

出版信息

S Afr Med J. 1978 Oct 14;54(16):639-42.

PMID:154173
Abstract

A genetic clinic has been held once a week at the Red Cross War Memorial Children's Hospital for the past 6 years. During the period 1971--1977, 579 patients were seen, of whom 56% had genetic conditions due to chromosome defects, Mendelian traits or a multifactorial type of inheritance. In these, genetic counselling was a prime importance regarding prognosis, risk of recurrence and possibility of antenatal diagnosis. A further 25% of patients seen had conditions of non-genetic origin and could be reassured, while in the remaining 19% no specific causation was detected.

摘要

在过去六年里,红十字战争纪念儿童医院每周都会举办一次基因门诊。在1971年至1977年期间,共接待了579名患者,其中56%的患者患有因染色体缺陷、孟德尔性状或多因素遗传类型导致的基因疾病。对于这些患者,就预后、复发风险和产前诊断的可能性而言,遗传咨询至关重要。另外25%前来就诊的患者患有非基因源性疾病,可以得到安心的诊断结果,而其余19%的患者未检测到具体病因。

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