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一个家系三代人中出现的两个平衡易位:t(7;10)(q11;q22) 和 t(14;21)(14qter 至 cen 至 21qter)1 。

Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.

作者信息

Bass H N, Sparkes R S

出版信息

J Med Genet. 1979 Jun;16(3):215-8. doi: 10.1136/jmg.16.3.215.

Abstract

A reciprocal chromosome translocation between 7q and 10q and an unrelated Robertsonian translocation involving 14q and 21q were found in a healthy 44-year-old man, in his normal 18-year-old son, and in his mother. They were ascertained through the man's brother, whose grandson has Down's syndrome as a result of an inherited 14q21q translocation. To our knowledge, this is the second report of a karyotype with both reciprocal and Robertsonian translocations in a single subject, and only the fourth report of independently segregating double translocations occurring in more than one generation.

摘要

在一名44岁健康男性、其18岁正常儿子及母亲体内,发现了7号染色体长臂与10号染色体长臂之间的相互易位,以及一条涉及14号染色体长臂和21号染色体长臂的不相关罗伯逊易位。他们是通过该男性的兄弟确诊的,其兄弟的孙子因遗传的14q21q易位而患有唐氏综合征。据我们所知,这是关于单一受试者同时存在相互易位和罗伯逊易位核型的第二篇报道,也是独立分离的双易位发生在不止一代中的第四篇报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7ad/1012694/f2450f77a210/jmedgene00292-0053-a.jpg

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