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一名卵巢早衰患者的平衡易位X; 22

Balanced X; 22 translocation in a patient with premature ovarian failure.

作者信息

Banerjee N, Kriplani A, Takkar D, Kucheria K

机构信息

Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi.

出版信息

Acta Genet Med Gemellol (Roma). 1997;46(4):241-4. doi: 10.1017/s0001566000000477.

Abstract

A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.

摘要

本文描述了一名25岁继发性闭经和卵巢早衰(POF)女性患者,其核型为46,X,t(X;22)(q24;q13)的平衡易位X;常染色体。讨论了平衡易位X;常染色体[t(X;A)]与这些女性中观察到的不同表型表达之间的关系。该病例强调了早期识别这些女性的重要性,以便在性腺功能完全丧失之前,让她们在月经量少或闭经阶段有最佳的受孕机会。

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