Parental age and the origin of extra chromosome 21 in Down syndrome
Parental age and the origin of extra chromosome 21 in Down syndrome
复制标题
DOI：
10.1007/s100380170071
复制
发表时间：
2001-01-01
影响因子：
3.5
通讯作者：
Reddy, PP
中科院分区：
文献类型：
--
作者：
Jyothy, A;Kumar, KSD;Reddy, PP
我们提出了一份关于减数分裂不分离的亲代年龄(n=865)和亲代起源(n=236)的报告，这可能表明唐氏综合征(DS)的病因学易感性。对1001例唐氏综合征患者进行了20年的染色体分析，发现纯21三体核型880例(87.92%)，镶嵌三体核型77例(7.69%)，易位核型44例(4.39%)。母亲平均年龄为30.34岁，父亲平均年龄为31.04岁。非分离错误母方占79.24%，父方占20.76%。研究结果显示，父母年龄增大和母亲减数分裂非分离错误增加对21三体唐氏综合征的起源有显著贡献。
We present a report of the parental ages (n = 865) and parental origin of meiotic nondisjunction (n = 236) that are likely to show a predisposition in the etiology of Down syndrome (DS). Chromosomal analysis, performed over a 20-year period, on 1001 Down syndrome subjects, revealed pure trisomy 21 karyotype in 880 subjects (87.92%), mosaic trisomy karyotype in 77 (7.69%), and translocation karyotype in 44 (4.39%). The mean maternal age was found to be 30.34 years, and mean paternal age was 31.04 years. Nondisjunctional error was 79.24% maternal and 20.76% paternal. The findings of the study revealed the significant contribution of advanced parental age and increased maternal meiotic nondisjunctional error to the origin of trisomy 21 Down syndrome.