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再探家族性胃息肉病。常染色体显性遗传得以证实。

Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed.

作者信息

Seruca R, Carneiro F, Castedo S, David L, Lopes C, Sobrinho-Simões M

机构信息

Department of Pathology, Medical Faculty of Porto, Portugal.

出版信息

Cancer Genet Cytogenet. 1991 May;53(1):97-100. doi: 10.1016/0165-4608(91)90119-f.

Abstract

We update and review a large pedigree originally described by Santos and Magalhães with familial gastric polyposis and a high incidence of gastric cancer. The present observation of male-to-male transmission of the disease clearly demonstrates the autosomal dominant pattern of inheritance. The histologic review of the polyps present in several members of the family allowed the diagnosis of hyperplastic polyposis. Eight members of the family (two with concomitant gastric pathology) have severe cutaneous psoriasis. This finding may represent the existence of two different disorders segregating in the family or, alternatively, pleiotropic manifestations of the same gene.

摘要

我们更新并回顾了一个最初由桑托斯和马加良斯描述的大家族谱系,该家族患有家族性胃息肉病且胃癌发病率很高。目前对该疾病男性与男性之间传播的观察清楚地表明了常染色体显性遗传模式。对家族中几名成员所患息肉进行的组织学检查确诊为增生性息肉病。该家族中有八名成员(两名伴有胃部病变)患有严重的皮肤银屑病。这一发现可能意味着家族中存在两种不同的疾病,或者是同一基因的多效性表现。

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