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家族性多余无随体微小染色体

Familial supernumerary non-satellited microchromosome.

作者信息

Tsukahara M, Endo F, Aoki Y, Matsuo K, Kajii T

出版信息

Clin Genet. 1986 Sep;30(3):226-9. doi: 10.1111/j.1399-0004.1986.tb00599.x.

Abstract

A small, non-satellited and metacentric supernumerary chromosome was ascertained in an amniotic fluid cell culture. The supernumerary chromosome was present in four of seven family members karyotyped. Of these four carriers, two were phenotypically normal, while the other two, the fetus and its elder sister, suffered from methylmalonic acidemia. The supernumerary chromosome was apparently stable, being transmitted through three generations without causing mosaicism. It had a single C band, seven G bands and was silver staining negative, a hitherto undescribed situation.

摘要

在羊水细胞培养中发现了一条小的、无随体且着丝粒位于中央的额外染色体。在进行核型分析的7名家庭成员中,有4人存在这条额外染色体。在这4名携带者中,2人表型正常,而另外2人,即胎儿及其姐姐,患有甲基丙二酸血症。这条额外染色体显然很稳定,在三代中传递且未导致嵌合体现象。它有一条单一的C带、七条G带,银染阴性,这是一种迄今未被描述过的情况。

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