荷兰的臂内倒位inv(11)(q21q23)
Paracentric inversion inv(11)(q21q23) in The Netherlands.
作者信息
Madan K, Pieters M H, Kuyt L P, van Asperen C J, de Pater J M, Hamers A J, Gerssen-Schoorl K B, Hustinx T W, Breed A S, Van Hemel J O
机构信息
Institute of Human Genetics, Free University, Amsterdam, The Netherlands.
出版信息
Hum Genet. 1990 Jun;85(1):15-20. doi: 10.1007/BF00276319.
We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Also, so far, there are no children with recombinant chromosomes arising from the inversion. It is doubtful whether prenatal diagnosis would be helpful to carriers of this inversion. The results of the genealogy study and geographical distribution are discussed; it is suggested that all the families have arisen from a single mutation.
我们报告了对荷兰20个家庭中72名臂内倒位inv(11)(q21q23)携带者的调查结果。倒位携带者及其伴侣的自然流产率没有增加。此外，到目前为止，没有因倒位产生的重组染色体患儿。对于这种倒位的携带者，产前诊断是否有用值得怀疑。文中讨论了系谱研究结果和地理分布情况；研究表明所有家庭可能源于单一突变。
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