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在三代人中观察到一种家族性F/G易位[t(p-; 22q+)] 。

A familial F/G translocation [t(p-; 22q+)] observed in three generations.

作者信息

Cohen M M, Davidson R G, Brown J A

出版信息

Clin Genet. 1975 Feb;7(2):120-7. doi: 10.1111/j.1399-0004.1975.tb00307.x.

Abstract

A family is described in which a translocation between chromosomes 20 and 22 has been observed in three generations. Two first cousins with remarkably similar malformations and mental retardation have identical karyotypes which, after chromosome banding, were interpreted as partially trisomic for the short arm of chromosome No. 20.

摘要

本文描述了一个家族,在三代人中均观察到20号和22号染色体之间的易位。两个患有明显相似畸形和智力迟钝的第一代堂兄妹具有相同的核型,经染色体显带后,被解释为20号染色体短臂部分三体性。

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