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简要临床报告:非嵌合型部分9号染色体四体和部分三体

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.

作者信息

Shapiro S D, Hansen K L, Littlefield C A

出版信息

Am J Med Genet. 1985 Feb;20(2):271-6. doi: 10.1002/ajmg.1320200210.

Abstract

Partial tetrasomy 9 is a very rare chromosome abnormality. Of the reported cases, most have had tetrasomy only of 9p arising from the formation of an isochromosome. In addition, mosaicism was found in five of the 12 previous cases. We report on a case of non-mosaic partial tetrasomy 9 involving all of the short arms and asymmetrical segments of the long arms.

摘要

9号染色体部分四体是一种非常罕见的染色体异常。在已报道的病例中,大多数仅9号染色体短臂出现四体,源于等臂染色体的形成。此外,在之前12例病例中有5例发现了嵌合体。我们报告一例非嵌合型9号染色体部分四体病例,累及所有短臂和长臂的不对称节段。

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