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15号染色体的镶嵌性倒位重复且无表型效应:在一位父亲和女儿身上出现

Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter.

作者信息

Knight L A, Lipson M, Mann J, Bachman R

出版信息

Am J Med Genet. 1984 Mar;17(3):649-54. doi: 10.1002/ajmg.1320170315.

Abstract

A mosaic marker chromosome was observed in 2 generations. Multiple staining techniques identified it as an inverted duplication of chromosome 15 (inv dup 15) derived from the paternal grandmother. Although this inv dup 15 included a central R band, there was no noticeable phenotypic effect.

摘要

在两代人中观察到一条嵌合标记染色体。多种染色技术将其鉴定为源自祖母的15号染色体的反向重复(inv dup 15)。尽管这条inv dup 15包含一个中央R带,但未观察到明显的表型效应。

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