环状染色体
生物
姐妹染色单体
染色单体
遗传学
戒指(化学)
双着丝粒染色体
端粒
有丝分裂
体细胞
核型
染色体
后代
DNA
化学
基因
有机化学
怀孕
作者
Marsha D. Speevak,Carolin Smart,Lianne Unwin,Morag Bell,Sandra A. Farrell
出处
期刊:American journal of medical genetics
[Wiley]
日期:2003-08-04
卷期号:121A (2): 141-145
被引量:25
摘要
Ring chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end-to-end fusion of the telomeres. The phenotype of ring carriers is unpredictable, and developmental abnormalities may occur even when the ring appears to be structurally balanced. This is believed to be due to mitotic instability from abnormal segregation and sister chromatid exchange in somatic cells. Although ring chromosomes usually arise as de novo events, transmittal from mosaic carriers to offspring sometimes occurs. In such cases, offspring with ring mosaicism in combination with a normal cell line remain unexplained. In this report, we used detailed molecular and cytogenetic analyses of a prenatally detected, inherited ring (19) to observe the behavior of the ring chromosome in culture, and to investigate the mechanism of inherited ring chromosome mosaicism. © 2003 Wiley-Liss, Inc.
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