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III型家族性并指畸形——一个大家系的报告

Familial syndactyly type III--report of a large pedigree.

作者信息

McKiernan M V, McCann J J

机构信息

Dept. of Plastic, Reconstructive and Hand Surgery, University College Hospital, Galway, Republic of Ireland.

出版信息

Clin Genet. 1993 Nov;44(5):270-1. doi: 10.1111/j.1399-0004.1993.tb03895.x.

Abstract

We present a pedigree containing 14 cases of familial syndactyly of the ring and little finger (Type III syndactyly). Three of these were treated surgically in this unit, and a fourth had previously been treated elsewhere by the senior author of this paper. Analysis of the pedigree confirms the autosomal dominant nature of the genetic defect, while clinical study reveals variable phenotypical expression. This is one of the largest pedigrees et reported for this variety of syndactyly.

摘要

我们展示了一个包含14例环指和小指并指(III型并指)的家系。其中3例在本单位接受了手术治疗,第4例此前由本文的资深作者在其他地方进行了治疗。对该家系的分析证实了遗传缺陷的常染色体显性性质,而临床研究揭示了表型表达的变异性。这是报道的该类型并指中最大的家系之一。

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