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 |
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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