Abstract
Objective: To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization (FISH) technique and precisely identify the breakpoints. Methods: The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes (YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results: A balanced translocation was confirmed and the breakpoints were located in the 1. 5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion: The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).
| Original language | English |
|---|---|
| Journal | Chinese Journal of Medical Genetics |
| Volume | 18 |
| Issue number | 2 |
| Pages (from-to) | 96-99 |
| Number of pages | 4 |
| ISSN | 1003-9406 |
| Publication status | Published - 2001 |
Research Areas and Centers
- Research Area: Medical Genetics
