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21三体综合征:不分离的起源

Trisomy 21: origin of non-disjunction.

作者信息

del Mazo J, Pérez Castillo A, Abrisqueta J A

出版信息

Hum Genet. 1982;62(4):316-20. doi: 10.1007/BF00304546.

Abstract

The Q-band heteromorphisms of chromosome 21 were used in a sample of 48 families with a Down's syndrome child to evaluate the origin of non-disjunction. The parental origin and the meiotic error were determined in 27 families, and in eight families only partial information was obtained. Paternal and maternal origin of non-disjunction was in a 1:3 ratio. Failures were five times more frequent in first than in second meiotic division in both sexes. The mean parental age and environmental factors in relation to the origin of the anomaly are discussed. Our results are compared with those obtained previously in similar studies by other authors.

摘要

在一个有唐氏综合征患儿的48个家庭样本中,使用21号染色体的Q带异态性来评估不分离的起源。确定了27个家庭中不分离的亲代起源和减数分裂错误,在8个家庭中仅获得了部分信息。不分离的父源和母源比例为1:3。在两性中,第一次减数分裂中的失败比第二次减数分裂中的失败频繁五倍。讨论了与异常起源相关的亲代平均年龄和环境因素。我们的结果与其他作者先前在类似研究中获得的结果进行了比较。

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