Incidence and clinical significance of chromosomal abnormalities of heterochromatin area of human chromosome 9
Abstract
Cytogenetic abnormalities of the heterochromatin area of chromosome 9 are considered to be clinically insignificant variants of human karyotype. Nevertheless, many recent studies discuss possible pathologic effect of selected variants, especially association with reproduction failure.
Among 1036 patients with reproduction failure we found total 127 heterochromatin variants (62 variants of chromosome 9). Among 995 fetuses we found only 86 heterochromatine variants (39 variants of chromosome 9).
This difference was statistically significant (p < 0,5) both for all heterochromatine variants and solely for variants of chromosome 9. Possible association of these variants with the reproduction failure will require further investigation on the molecular-cytogenetic level.