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一位正常母亲发生5;7、5;12双相互易位,其正常孩子发生5;7易位并带有一条重组5号染色体。

A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

作者信息

Tabor A, Jensen L K, Lundsteen C, Niebuhr E

出版信息

J Med Genet. 1981 Aug;18(4):307-9. doi: 10.1136/jmg.18.4.307.

Abstract

A phenotypically normal mother had two apparently balanced translocations involving chromosomes 5, 7, and 12. Her karyotype was 46,XX,t(5;7) (5;12) (p14q34;p14;q21), while her daughter, who was also phenotypically normal, had inherited only one of the translocations. Her karyotype was 46,XX,-5,-7,+rec(5)t(5;7) (q34;p14)mat,+der(7)t(5;7) (q34;p14)mat. The other was lost during a meiotic crossing over, giving the daughter an apparently balanced chromosome complement.

摘要

一位表型正常的母亲有两个涉及5号、7号和12号染色体的明显平衡易位。她的核型为46,XX,t(5;7)(5;12)(p14q34;p14;q21),而她同样表型正常的女儿只遗传了其中一个易位。她的核型为46,XX,-5,-7,+rec(5)t(5;7)(q34;p14)mat,+der(7)t(5;7)(q34;p14)mat。另一个在减数分裂交叉过程中丢失了,使女儿具有明显平衡的染色体组成。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec20/1048740/94787b1b0360/jmedgene00120-0065-a.jpg

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