与痉挛性截瘫和早发性绝经相关的X染色体长臂重复。
Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.
作者信息
Kleczkowska A, Fryns J P, Van den Berghe H
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1993;4(3):213-6.
PMID:8267930
Abstract
In this report we describe a 24-year-old mentally normal female with spastic paraparesis, premature menopause and with a duplication of Xq22.3-->q27.3. The relationship between the X-chromosomal anomaly and the gonadal and neurological symptoms is discussed.
摘要
在本报告中，我们描述了一名24岁精神正常的女性，她患有痉挛性截瘫、过早绝经，并且存在Xq22.3至q27.3的重复。文中讨论了X染色体异常与性腺及神经症状之间的关系。
Zotero 插件