Martin A O, Miller L, Simpson J L, Thomas C, Rzeszotarski M S, Elias S, Sarto G E, Patel V A
Hum Genet. 1979 Apr 27;48(2):211-9. doi: 10.1007/BF00286906.
A variant chromosome no. 21 consisting of two stalks and two satellites in tandem was detected during a survey of a human isolate. The variant segregated in three generations of a large kindred. One male had the variant no. 21, a metacentric Y, and a 47,XXY complement; however, no other evidence of chromosomal nondisjunction was found. Computer-aided analysis of sequentially stained variant no. 21 chromosomes indicated that silver-stained material corresponded to the proximal stalk region (as defined by Giemsa), but often covered both the distal stalk and satellite (also as defined by Giemsa). These data support the hypothesis that human nucleolar organizers are localized to the stalks of acrocentric chromosomes.
在对一个人类隔离群体的调查中，检测到一条由两个柄和两个串联卫星组成的21号变异染色体。该变异在一个大家系的三代中分离。一名男性具有变异的21号染色体、一条中着丝粒Y染色体和47,XXY核型；然而，未发现其他染色体不分离的证据。对连续染色的变异21号染色体进行计算机辅助分析表明，银染物质对应于近端柄区域（由吉姆萨染色定义），但通常覆盖远端柄和卫星（也由吉姆萨染色定义）。这些数据支持了人类核仁组织区定位于近端着丝粒染色体柄部的假说。
