Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 36 (1) , 25-33
- https://doi.org/10.1007/bf00390432
Abstract
In a newborn boy with multiple malformations, a tandem duplication was detected at the distal end of the long arm of one human chromosome 1. The Giemsa bands, 1q31 to 1q43–44, were repeated serially. Since 5S rRNA genes are located at 1q42–43, in situ hybridization of 125I 5S rRNA with fixed chromosome preparations was used to confirm the chromosomal duplication. The infant exhibited numerous developmental and clinical abnormalities as might be expected with an abnormality of chromosome structure relating to a ribosome component.Keywords
This publication has 16 references indexed in Scilit:
- Chapter 7 The Radioiodination of RNA and DNA to High Specific ActivitiesPublished by Elsevier ,1976
- The site of 5S RNA genes in human chromosome 1Cytogenetic and Genome Research, 1975
- Mapping the human 5S RNA genes on chromosome 1 using translocationsCytogenetic and Genome Research, 1975
- Report of the committee on the genetic constitution of chromosomes 1 and 2Cytogenetic and Genome Research, 1975
- Localisation of 5S ribosomal RNA genes on human chromosome 1Nature, 1974
- The Use of Iodinated RNA for Gene LocalizationProceedings of the National Academy of Sciences, 1973
- Identification of normal and abnormal chromosomes in tumor cellsCytogenetic and Genome Research, 1973
- Populations of repeated DNA sequences in the human genomeJournal of Molecular Biology, 1972
- Studies of fractionated HeLa cell metaphase chromosomes: II. Chromosomal distribution of sites for transfer RNA and 5 s RNAJournal of Molecular Biology, 1971
- Improved separation of transfer RNA's on polychlorotrifluoroethylene-supported reversed-phase chromatography columnsBiochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis, 1971