Abstract
Pericentric inversion of chromosome 9 - inv(9) - is considered to be clinically insignificant heterochromatin variant of human karyotype. However, various author repeatedly mention possible association of inv(9) and selected pathologies, especially with reproduction failure.
This can cause some consultation dilemma, especially when inv(9) is identified in potential gamete donor. Some authors also suggest the same role for other variants of the heterochromatin region of the human chromosome 9 (like 9qh+ or 9qh) as well.
Using the data from our cytogenetic laboratory - we analyzed the clinical indications among 383 patients with heterochromatin variant of chromosome 9 and we have found the reproduction failure to be the most common diagnose (more then 43 %). That was far more, then was the incidence of reproduction failure in our control group of patients with normal karyotype.
This difference was also statistically significant. We have confirmed heterochromatin variants of chromosome 9 as relatively common finding, this time in population in the Czech Republic.
The clinical significance, however, remains subject of discussion. Possible association of heterochromatin variants of human chromosome 9 with reproduction failure had quite low statistical significance and will require further investigation.