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与复发性流产相关的合子后D/D易位纯合性

Postzygotic D/D translocation homozygosity associated with recurrent abortions.

作者信息

Maeda T, Ohno M, Takada M, Matsunobu A, Arai M

出版信息

Am J Med Genet. 1983 Jul;15(3):389-92. doi: 10.1002/ajmg.1320150304.

Abstract

A Robertsonian translocation involving homologous D chromosomes was found in two cases with a history of recurrent abortions. In the first case the propositus was a 37-year-old phenotypically normal man who had a balanced t(14q14q) translocation. In the second case, a 27-year-old phenotypically normal woman was found to be a balanced t(15q15q) translocation carrier. The recurrent abortions in both cases were probably owing to this translocation.

摘要

在两例有反复流产史的病例中发现了涉及同源D染色体的罗伯逊易位。第一例中,先证者是一名37岁表型正常的男性,他有平衡的t(14q14q)易位。第二例中,一名27岁表型正常的女性被发现是平衡的t(15q15q)易位携带者。这两例中的反复流产可能都归因于这种易位。

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