Association of pericentric inversion of chromosome 9 (inv[9][p11q13]) and genetic diseases: Case report

Abstract

Pericentric inversion in heterochromatic region of chromosome 9 (inv[9]) is a common (1-3%) heteromorphism in the general population. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Despite being categorized as a minor chromosomal rearrangement, which does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with subfertility and recurrent abortions, abnormal clinical conditions, as well as chromosomal abnormalities due to the possession of this inversion. In our study, the significance of the inv(9) and the genetic counseling process was discussed in view of the literature. The possible significance of this inversion is interviewed.