Robinson J A, Newton M
J Med Genet. 1977 Feb;14(1):40-5. doi: 10.1136/jmg.14.1.40.
Fluorescence polymorphism frequencies have been determined for a group of 85 Down's syndrome cases and 164 controls. For one class of polymorphism, that of positive satellites of chromosome 21, the frequency in the Down's cases was significantly higher than in the controls; the distribution of positive satellites in the mongols indicates that in the majority the extra chromosome arose by first meiotic non-disjunction. The possibility that positive satellites on chromosome 21 could be a causative factor in Down's syndrome is discussed, and the implications of this possibility on the assessment of the risk of producing a Down's child are examined.
已测定了85例唐氏综合征病例和164例对照者的荧光多态性频率。对于一类多态性,即21号染色体的阳性卫星多态性,唐氏综合征病例中的频率显著高于对照者;蒙古人中阳性卫星的分布表明,大多数额外染色体是由第一次减数分裂不分离产生的。讨论了21号染色体上的阳性卫星可能是唐氏综合征致病因素的可能性,并研究了这种可能性对评估生育唐氏患儿风险的影响。