人类中的一种家族性双卫星额外中着丝粒微小染色体。

A familial bisatellited extra metacentric microchromosome in man.

作者信息

Howard-Peebles P N

出版信息

J Hered. 1979 Sep-Oct;70(5):347-8. doi: 10.1093/oxfordjournals.jhered.a109272.

DOI:10.1093/oxfordjournals.jhered.a109272

Abstract

A bisatellited, extra metacentric microchromosome was found in a normal male and his father. This extra marker participated in satellite association in over 50 percent of the cells; silver-staining revealed only one active NOR region. Other banding studies identified two other cytogenetic "markers" in the family-a 9qh+ and a 21s+. Risk for a carrier of such a microchromosome is probably low but cytogenetic amniocentesis is recommended to rule out aneuploidy in the fetus.

摘要

在一名正常男性及其父亲体内发现了一条双随体、额外的亚中着丝粒微小染色体。这条额外的标记染色体在超过50%的细胞中参与了随体联合；银染显示仅有一个活跃的核仁组织区。其他显带研究在该家族中还发现了另外两个细胞遗传学“标记”——一个9qh+和一个21s+。携带这种微小染色体的风险可能较低，但建议进行细胞遗传学羊膜穿刺术以排除胎儿的非整倍体情况。