生育能力与X染色体重排：母亲中形成等臂双中心X染色体及女儿中出现Xp缺失。
Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter.
作者信息
Fryns J P, Kleczkowska A, Debucquoy P, van den Berghe H
机构信息
Department of Human Biology, University of Leuven, Belgium.
出版信息
Clin Genet. 1988 Nov;34(5):321-4. doi: 10.1111/j.1399-0004.1988.tb02885.x.
Abstract
In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells.
摘要
在本文中，我们报告了首例具有等臂双着丝粒X染色体形成和核型为45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter)的女性生育案例。她的女儿表型几乎正常，且在所有检测细胞中均呈现46,X,del(X)(pter----p21.3)核型。
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