M. Guttenbach et al., Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families, J MED GENET, 36(4), 1999, pp. 339-342
Citations number
29
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Two different NOR bearing non-acrocentric chromosomes were detected during
prenatal diagnosis performed on two probands because of advanced maternal a
ge. In the first case, a chromosome 4 carried a NOR in the telomeric region
of the long arm (4qs), while in the second case a NOR was inserted into ch
romosome 8q11. Family analysis showed the variant chromosomes to be transmi
tted through at least three generations in each family. There were no repor
ts of reproductive problems or phenotypic effects in the carriers of these
chromosomes, indicating the benign character of the aberrant chromosomes. I
n order to characterise the chromosomal variants more precisely, various di
fferential banding techniques were applied.