15号环状染色体：表型、银染核仁组织区分析、继发性非整倍体及相关染色体不稳定性

Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.

作者信息

Ledbetter D H, Riccardi V M, Au W W, Wilson D P, Holmquist G P

出版信息

Cytogenet Cell Genet. 1980;27(2-3):111-22. doi: 10.1159/000131472.

Abstract

Cytogenetic analysis of a 15 month old girl evaluated for severe developmental delay and acral skeletal hypoplasia revealed a predominant 46,XX,r(15) karyotype. Prophase banding analysis showed minimal deletion of the ring chromosome (breakpoints p12 and q26), while silver staining showed it to have an active nucleolus organizing region, multiple abnormal secondary configurations, and decreased satellite association. Although there was no spontaneous instability in the rest of the karyotype, gentian violet-induced chromosome breakage was significantly increased. The rate of spontaneous sister chromatid exchange was not elevated. Cellular mosaicism for chromosome 15 aneuploidy most likely accounts for the patient's phenotypic abnormalities.

摘要

对一名15个月大、因严重发育迟缓及肢体骨骼发育不全接受评估的女童进行细胞遗传学分析，结果显示其核型主要为46,XX,r(15)。前期显带分析表明环状染色体的缺失极少（断点为p12和q26），而银染显示其具有一个活跃的核仁组织区、多个异常的二级构型以及卫星联合减少。尽管核型的其余部分无自发不稳定性，但龙胆紫诱导的染色体断裂显著增加。姐妹染色单体交换的自发率未升高。15号染色体非整倍体的细胞镶嵌现象很可能是导致该患者表型异常的原因。