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涉及7号、8号和9号染色体的家族性复杂常染色体易位,呈现男女传递,并伴有分离和重组。

Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

作者信息

Walker S, Howard P J, Hunter D

出版信息

J Med Genet. 1985 Dec;22(6):484-91. doi: 10.1136/jmg.22.6.484.

Abstract

A family showing a complex translocation between chromosomes 7, 8, and 9 with breakpoints at 7q21, 7q33, 8p23, and 9p23 is described. The proband had been referred because of repeated spontaneous abortions. This is only the second family to be ascertained in this way. Twenty-three other cases of complex translocations are briefly reviewed, eight of which were de novo in origin and 15 familial. All but one of the familial cases showed maternal transmission only. The present family shows both maternal and paternal transmission and is thought to be the first exhibiting recombination from a male carrier. The origin and transmission of the complex translocation is followed through three generations.

摘要

本文描述了一个家族,其7号、8号和9号染色体之间存在复杂易位,断点位于7q21、7q33、8p23和9p23。先证者因反复自然流产前来就诊。这是通过这种方式确诊的第二个家族。简要回顾了另外23例复杂易位病例,其中8例为新发,15例为家族性。除1例家族性病例外,其余均仅显示母系遗传。本家族显示了母系和父系遗传,被认为是首例显示男性携带者发生重组的家族。复杂易位的起源和遗传在三代人中得以追踪。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f8d/1049510/35803f5c119d/jmedgene00098-0070-a.jpg

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