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患有神经管缺陷先证者的同胞——在德意志联邦共和国进行的一项研究。

Sibs of probands with neural tube defects--a study in the Federal Republic of Germany.

作者信息

Koch M, Fuhrmann W

出版信息

Hum Genet. 1985;70(1):74-9. doi: 10.1007/BF00389463.

Abstract

Data for the risk of neural tube defects in sibs of affected children are needed for genetic counselling, for decision on prenatal studies, and for planning of preventive measures. Data have been reported from various populations but were lacking for Germany. This study presents data on the siblings of 240 index patients in the Western part of the Federal Republic of Germany. The prevalence among sibs of affected individuals was found to be 2.6%. This figure agrees well with reports from other countries in Continental Europe and the United States, and fits the expectation of lower recurrence risks in low incidence populations.

摘要

为了进行遗传咨询、决定是否进行产前研究以及规划预防措施,需要有关患病儿童兄弟姐妹神经管缺陷风险的数据。已经有来自不同人群的数据报告,但德国的数据尚缺。本研究提供了德意志联邦共和国西部240例索引患者兄弟姐妹的数据。受影响个体的兄弟姐妹中的患病率为2.6%。这一数字与欧洲大陆其他国家和美国的报告非常吻合,并且符合低发病率人群中较低复发风险的预期。

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