Abstract
A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.
| Original language | English |
|---|---|
| Pages (from-to) | 411-414 |
| Number of pages | 4 |
| Journal | Chromosome Research |
| Volume | 6 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 1998 |
Keywords
- Chromosome 5
- Chromosome 9
- Chromosome rearrangement
- Fluorescence in situ hybridization
- Heterochromatin polymorphism
ASJC Scopus subject areas
- Genetics
Fingerprint Dive into the research topics of 'A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences'. Together they form a unique fingerprint.
Cite this
Doneda, L., Gandolfi, P., Nocera, G., & Larizza, L. (1998). A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences. Chromosome Research, 6(5), 411-414. https://doi.org/10.1023/A:1009237608514