von Beust G, Bink K
Institute of Human Genetics, University of Göttingen, Germany.
Fetal Diagn Ther. 1999 Jan-Feb;14(1):35-7. doi: 10.1159/000020885.
Chromosomal analysis of amniotic cell culture revealed an extra euchromatic band in the variable heterochromatin region 9q12. Cytogenetic analysis of the fetus was compared with the chromosomes of the parents. Using different cytogenetic banding techniques and fluorescence in situ hybridization with specific DNA probes, the structural rearrangements involved were considered. The very rare variant proved to be familial. Demonstrating the inheritance of a normal individual supports the interpretation of the prenatal analysis of chromosome 9 as a variant without clinical relevance for the fetus.
羊水细胞培养的染色体分析显示,在可变异染色质区域9q12存在一条额外的常染色质带。将胎儿的细胞遗传学分析与父母的染色体进行了比较。使用不同的细胞遗传学显带技术以及与特定DNA探针的荧光原位杂交技术,对所涉及的结构重排进行了研究。事实证明,这种非常罕见的变异是家族性的。证实一个正常个体的遗传情况,支持将9号染色体的产前分析解释为一种对胎儿无临床意义的变异。