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关于21号和22号染色体之间家族性易位的大家族报告。

Report of large kinship with familial translocation between chromosomes 21 and 22.

作者信息

Brissenden J E, Costa M T, Roberts M H

出版信息

Can Med Assoc J. 1977 Dec 17;117(12):1411-3.

Abstract

This paper reports a large kinship with a familial (21;22) translocation occurring in both the balanced and the unbalanced states. Recurrence risks for the (21;22) translocation in the unbalanced state are high (14%) for the offspring of female carriers as compared with those for the offspring of male carriers (4%), but the offspring of male carriers appear to have a much higher risk (50%) of being balanced carriers than those of female carriers (30%).

摘要

本文报道了一个大家族,其中存在一种家族性的(21;22)易位,该易位以平衡态和不平衡态两种形式出现。与男性携带者的后代相比,不平衡态(21;22)易位在女性携带者后代中的复发风险较高(14%),但男性携带者的后代成为平衡携带者的风险(50%)似乎比女性携带者的后代(30%)高得多。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1880414/8279af0b5a60/canmedaj01518-0057-a.jpg

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