New insights into the effects of extra nucleolus organizer regions

Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observe...

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Bibliographic Details
Published in:Human genetics 1986, Vol.72 (1), p.80-82
Main Authors: PEREZ-CASTILLO, A, MARTIN-LUCAS, M. A, ABRISQUETA, J. A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, 13-15
Female
Genetic Markers
Heterozygote
Humans
Karyotyping
Male
Medical genetics
Medical sciences
Nucleolus Organizer Region
Pedigree
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Summary:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal chromosome. The Ag-I method showed from zero to four silver precipitates on the 15p+ marker. Mean Ag-staining for 15p+ and the ten acrocentric chromosomes were obtained in the carriers. Statistically significant differences between sibs were found. These results suggest the existence of: (a) An interindividual and intercellular variation of nucleolus organizer region (NOR) activity in man. (b) An optimal threshold of NOR activity, so that disturbances at the meiotic level could occur when it is exceeded. Our conclusions lead us to advise analysis of NOR activity in individuals with extra nucleolus organizer regions.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00278823