Association of double nor variant with Turner syndrome
- 1 July 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (3) , 725-732
- https://doi.org/10.1002/ajmg.1320300305
Abstract
A study was made of the possible association of double nucleolus organizers (dNORs) with Turner syndrome. Occurrence of dNORs was determined using the silver staining method of Goodpasture and Bloom [1975]. In 45 control subjects, the incidence of dNORs was 8.8%. Studies were done on 33 Turner syndrome patients. In 28 cases with 45,X or 45,X/46,XX karyotypes, the incidence of the dNOR variant was 50%. Five cases of Turner syndrome with X rings or X isochromosomes were negative for dNORs. Analysis of the data indicates an association between the dNOR variant and the occurrence of Turner syndrome. It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome in meiosis or in mitotic divisions during early gestation.Keywords
This publication has 37 references indexed in Scilit:
- Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortionsHuman Genetics, 1987
- New data on the in situ position of the inactive X chromosome in the interphase nucleus of human fibroblastsHuman Genetics, 1985
- Abundance of protein-bound sulfhydryl and bisulfide groups at chromosomal nucleolus organizing regionsChromosoma, 1980
- Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomesHuman Genetics, 1977
- A new estimate of human ribosomal gene numberBiochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis, 1976
- Visualization of nucleolar organizer regions in mammalian chromosomes using silver stainingChromosoma, 1975
- Location of the genes coding for 18S and 28S ribosomal RNA in the human genomeChromosoma, 1974
- Frequency of satellite association in individuals with structural abnormalities of nucleolus organiser regionPublished by Springer Nature ,1973
- Location of Ribosomal DNA in the Human Chromosome ComplementProceedings of the National Academy of Sciences, 1972
- Para-nucleolar Position of the Human Y Chromosome in Interphase NucleiNature, 1971