Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
✍ Scribed by Dale M. Steffensen; Ernest H. Y. Chu; David P. Speert; Patrick M. Wall; Karen Meilinger; Robert P. Kelch
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 525 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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, lq31 to lq43--44, were repeated serially. Since 5S rRNA genes are located at lq42--43, in situ hybridization of ~25I 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.