MITOTIC ERRORS IN SOMATIC-CELLS CAUSE TRISOMY-21 IN ABOUT 4.5-PERCENT OF CASES AND ARE NOT ASSOCIATED WITH ADVANCED MATERNAL AGE

被引：125

作者：

ANTONARAKIS, SE

AVRAMOPOULOS, D

BLOUIN, JL

TALBOT, CC

SCHINZEL, AA

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21287

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT MED,BALTIMORE,MD 21287

[3] UNIV ZURICH,INST MED GENET,CH-8006 ZURICH,SWITZERLAND

来源：

NATURE GENETICS | 1993年 / 3卷 / 02期

关键词：

D O I：

10.1038/ng0293-146

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The study of DNA polymorphisms has permitted the determination of the parental and meiotic origin of the supernumerary chromosome 21 in families with free trisomy 21. Chromosomal segregation errors in somatic cells during mitosis were recognized after analysis of DNA markers in the pericentromeric region and (in order to identify recombination events) along the long arm of chromosome 21. Mitotic errors accounted for about 4.5% (11 of 238) of free trisomy 21 cases examined. The mean maternal age of mitotic errors was 28.5 years and there was no association with advanced maternal age. There was no preference in the parental origin of the duplicated chromosome 21. The 43 maternal meiosis II errors in this study had a mean maternal age of 34.1 years - the highest mean maternal age of all categories of chromosomal segregation errors.

引用

页码：146 / 150

页数：5

共 36 条

[1] PARENTAL ORIGIN OF THE EXTRA CHROMOSOME IN TRISOMY-21 AS INDICATED BY ANALYSIS OF DNA POLYMORPHISMS [J].