Hassold T, Jacobs P A, Pettay D
Hum Genet. 1987 Aug;76(4):381-4. doi: 10.1007/BF00272449.
Nucleolar organizing region (NOR) variants of parents of karyotyped spontaneous abortions were examined to test the hypothesis that double NORs are important in the genesis of acrocentric trisomies. We were unable to detect any significant difference in the frequency or types of NOR variants between parents of acrocentric trisomies and parents of other types of spontaneous abortions, nor did we identify a double NOR in either group. Thus, it seems unlikely that double NORs are of major significance in the etiology of acrocentric trisomies.
对核型分析的自然流产儿父母的核仁组织区(NOR)变异进行了检测,以验证双NOR在近端着丝粒三体发生中起重要作用这一假说。我们未能检测到近端着丝粒三体患儿父母与其他类型自然流产儿父母之间NOR变异的频率或类型有任何显著差异,在两组中也均未发现双NOR。因此,双NOR在近端着丝粒三体病因学中似乎不太可能具有主要意义。