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常染色体显性遗传性腕管综合征

Autosomal dominant carpal tunnel syndrome.

作者信息

Stoll C, Maitrot D

机构信息

Service de Génétique Médicale, CHU Strasbourg, France.

出版信息

Clin Genet. 1998 Oct;54(4):345-8. doi: 10.1034/j.1399-0004.1998.5440414.x.

Abstract

Carpal tunnel syndrome is common in adults and is usually sporadic and idiopathic. When carpal tunnel syndrome is inherited, it is often the manifestation of a systemic disease. We report carpal tunnel syndrome in an otherwise healthy woman aged 35 years. Family history reveals that her daughter, her sister and a sister's daughter, an aunt, a first cousin, her father and the paternal grandmother are also affected. The age of onset of the disease in this family was between 9 and 52 years of age. The family in this paper demonstrates an interesting pattern of inheritance with earlier onset of symptoms in subsequent generations, suggestive of anticipation.

摘要

腕管综合征在成年人中很常见,通常是散发且特发性的。当腕管综合征是遗传性时,它往往是一种全身性疾病的表现。我们报告了一名35岁身体健康的女性患有腕管综合征。家族史显示,她的女儿、妹妹、妹妹的女儿、一位阿姨、一位堂姐、她的父亲以及祖母也都患病。这个家族中该疾病的发病年龄在9岁至52岁之间。本文中的这个家族展示了一种有趣的遗传模式,即后代症状出现得更早,提示存在遗传早现现象。

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