Pericentric inversion of chromosome 9 causing infertility and subsequent successful in vitro fertilization

One of the most common and benign variants of normal human karyotype is pericentric inversion of chromosome 9 (inv[9][p11q13]). Despite being categorized as a normal variant, there are several reports of its association with various disease conditions. Here, we report a 27 year old female, who presented to us with primary infertility. The woman was diagnosed with inv (9)(p11q13) which was acknowledged as the reason for her otherwise unexplained infertility. The couple thereupon underwent in vitro fertilization using donor oocyte resulting in live birth. The clinical significance of this minor chromosomal rearrangement, need for genetic counseling, and subsequent reproductive guidance is highlighted in this report.