Kleczkowska A, Fryns J P, Van den Berghe H
Centre for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1993;4(3):213-6.
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.
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。
