Nondisjunction of chromosome 21.
Nondisjunction of chromosome 21.
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DOI：
10.1002/ajmg.1320370735
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发表时间：
2005-06
期刊：
影响因子：
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通讯作者：
Norma Takaesu;Patricia A. Jacobs;A. Cockwell;R. Blackston;S. Freeman;Jelica Nuccio;David M. Kurnit;Irene Uchida;Viola Freeman;Terry J. Hassold
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文献类型：
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作者：
Norma Takaesu;Patricia A. Jacobs;A. Cockwell;R. Blackston;S. Freeman;Jelica Nuccio;David M. Kurnit;Irene Uchida;Viola Freeman;Terry J. Hassold
利用染色体异型性和限制性片段长度多态性研究了54例21三体孕妇多余染色体的起源。在43例病例中确定了亲本来源，其中39例（91%）为母系来源，4例（9%）为亲本来源。重组分析表明，在大多数情况下，存在一个或两个交叉，这表明在减数分裂I时配对/交换失败在21三体的发生中相对不重要。
Chromosome heteromorphisms and restriction fragment length polymorphisms were used to study the origin of the extra chromosome in 54 trisomy 21 conceptuses. The parental origin was determined in 43 cases, with 39 (91%) being maternally and 4 (9%) parentally derived. Analysis of recombination demonstrated the presence of one or two cross-overs in most cases for which sufficient information was available, suggesting that failure to pair/exchange at meiosis I is relatively unimportant in the genesis of trisomy 21.