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匈牙利多指畸形的遗传学和流行病学研究。

Genetical and epidemiological studies of polydactyly in Hungary.

作者信息

Bellovits Orsolya

机构信息

Hungarian Academy of Sciences, Semmelweis University, Institute of Forensic Medicine, Budapest, Hungary.

出版信息

Anthropol Anz. 2003 Dec;61(4):413-9.

Abstract

Polydactyly is one of the most frequently observed human congenital limb malformations. Sporadic cases of polydactyly have been described, but most show an autosomal dominant pattern of inheritance. The purpose of this study was to investigate the frequency of polydactyly among children born between 1980 and 1997 in Hungary. The predominance of the postaxial type over the preaxial one was less than expected. These malformations affected significantly more boys than girls. The proportion of children with low birth weight affected by polydactyly was higher than expected. Among mothers giving life to offspring with polydactyly, the prevalence was high in the older age group. We analysed the regional distribution in Hungary and the twin frequency in connection with polydactyly. From our results comparing it to the current literature data we made conclusions about the possible causes of the development of polydactyly.

摘要

多指畸形是最常见的人类先天性肢体畸形之一。散发性多指畸形病例已有报道,但大多数表现为常染色体显性遗传模式。本研究的目的是调查1980年至1997年在匈牙利出生的儿童中多指畸形的发生率。轴后型多于轴前型的优势低于预期。这些畸形对男孩的影响明显大于女孩。多指畸形患儿中低体重儿的比例高于预期。在生育多指畸形患儿的母亲中,高龄组的患病率较高。我们分析了匈牙利的地区分布以及与多指畸形相关的双胞胎发生率。根据我们的结果并与当前文献数据进行比较,我们得出了关于多指畸形发生可能原因的结论。

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