2名男性和2名女性患者因易位t(X;15)导致部分Xp重复:一份家族病例报告和文献回顾。

Annales de genetique Pub Date : 1998-01-01
M I Melaragno, M A Ramos, D Brunoni
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引用次数: 0

摘要

三代家族易位(X;15)(p22;p11)在两名男性和两名女性患者中导致重复(X)(pter- >p22)。它在母亲中以平衡状态存在,在孩子中与衍生的15号染色体一起存在。衍生染色体15的Xp片段与X失活中心分离,不能经历X失活。因此,在男性和女性患者中存在Xp的功能性障碍,这是导致智力迟钝和其他表型发现的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.

A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.

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