家族性臂间倒位：现状简述
A familial paracentric inversion: a short review of the current status.
作者信息
Venter P A, Dawson B, Du Toit J L, Smith E L, Kritzinger N, Landman A S, Cronje A S, Op't Hof J
出版信息
Hum Genet. 1984;67(2):121-5. doi: 10.1007/BF00272985.
PMID:6745932
Abstract
We present here a familial case of a paracentric inversion in man with a short review of the literature. A paracentric inversion of chromosome 10(q11q26) was found in the amniocytes drawn for advanced maternal age. The presence of the inversion was investigated in 35 family members in three generations. No recombinants were recognized. The significance of these data for appropriate genetic counselling and possible reproductive risks is discussed.
摘要
我们在此呈现一例人类臂内倒位的家族病例，并对相关文献进行简要回顾。在因产妇高龄而抽取的羊水细胞中发现了10号染色体（q11q26）的臂内倒位。对三代中的35名家庭成员进行了倒位情况的调查。未发现重组情况。讨论了这些数据对于适当的遗传咨询和可能的生殖风险的意义。
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