Kovaleva N V, Butomo I V, Verlinskaia D K, Mant D I, Pavlova M N, Pantova I G, Prozorova M V, Shandlorenko S K, Shmatova I A
Genetika. 1994 Mar;30(3):428-32.
Karyological study of 644 newborns with Down's syndrome (DS) revealed 37 translocation cases (5.7%). Translocations were inherited in 8 cases, in 17 cases they were sporadic, and in 12 cases parents were not examined. Total mutation rate per gamete per generation (2.7.10) and mutation rates of D/21 and G/21 translocations in different female age groups were calculated. The obtained data are in good agreement with results of research in other world regions. Literature data on the parental origin of de novo translocations for DS are presented. The role of meiotic coorientation of nonhomologous chromosomes in anomalies of spermatogenesis is discussed.
对644例唐氏综合征（DS）新生儿进行的核型分析显示，有37例易位病例（5.7%）。其中8例易位是遗传而来，17例为散发，12例未对其父母进行检查。计算了每代每个配子的总突变率（2.7×10）以及不同女性年龄组中D/21和G/21易位的突变率。所得数据与世界其他地区的研究结果高度吻合。文中呈现了关于唐氏综合征新发易位的亲本来源的文献数据。讨论了非同源染色体减数分裂共取向在精子发生异常中的作用。
