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双易位会带来双重麻烦吗?

Are double translocations double trouble?

作者信息

Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A, Larkins S A, Johnson R A, Watt J L

机构信息

Regional Cytogenetics Unit, Birmingham Maternity Hospital, Edgbaston.

出版信息

J Med Genet. 1988 May;25(5):326-31. doi: 10.1136/jmg.25.5.326.

Abstract

Double translocation heterozygotes are rare, but need not necessarily pose more of a counselling problem than single reciprocal translocation heterozygotes. Nine cases of double translocation are presented, together with a review of the few reports published to date. An attempt is made to provide simple counselling guidelines in the assessment of the risk of producing a liveborn abnormal child. This is not based on theoretical considerations of segregation patterns, but extrapolated from what is known empirically about the viable segregation patterns in carriers of single reciprocal translocations. It assumes that there is no interference with the independent assortment of the two separate exchanges, unless a common participating chromosome is involved. The possibility of an interchromosomal effect has not been taken into consideration.

摘要

双易位杂合子很罕见,但不一定比单相互易位杂合子带来更多的咨询问题。本文报告了9例双易位病例,并对迄今已发表的少数报告进行了综述。试图提供简单的咨询指南,以评估生出活产异常儿童的风险。这并非基于分离模式的理论考虑,而是从单相互易位携带者中已知的可行分离模式经验推断而来。它假定除非涉及共同参与的染色体,否则两个独立交换的自由组合不会受到干扰。尚未考虑染色体间效应的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/319d/1050459/b0b59fe13b27/jmedgene00067-0041-a.jpg

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