Spinner N B, Eunpu D L, Schmickel R D, Zackai E H, McEldrew D, Bunin G R, McDermid H, Emanuel B S
Department of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.
Am J Hum Genet. 1989 May;44(5):631-8.
Silver-stained chromosomes from 29 couples with a trisomy 21 offspring and from 25 control couples were studied to determine whether there was an association of nucleolar-organizing-region variants in parents of children with trisomy 21. A reproducible scoring system for the analysis of silver-stained chromosomes was developed, and this was applied to the analysis of study participants in a blinded fashion. Seven of the 58 parents of children with trisomy 21 and seven of the 50 control parents were found to have variant NORs on silver staining. Therefore, we do not find a demonstrable risk for nondisjunction of chromosome 21 in individuals with silver-staining variants.
对29对生育了21三体后代的夫妇以及25对对照夫妇的银染染色体进行了研究，以确定21三体患儿的父母中核仁组织区变异是否存在关联。开发了一种用于分析银染染色体的可重复评分系统，并以盲法将其应用于研究参与者的分析。在58名21三体患儿的父母中有7名，50名对照父母中有7名在银染时发现有核仁组织区变异。因此，我们未发现银染变异个体中21号染色体不分离的明显风险。
