Pericentric inversion of chromosome 9 in a consanguineous couple with molar pregnancies and spontaneous abortions

Abstract

Pericentric inversion of human chromosome 9 is one of the most common balanced structural aberrations. Despite being categorized as a minor chromosomal rearrangement that does not correlate with abnormal phenotypes, many authors have reported an association of this inversion with subfertility, recurrent spontaneous abortions, and abnormal clinical phenotypes. Herein, we report the case of 3 consecutive hydatidiform moles, 4 spontaneous first-trimester abortions, and no normal pregnancies yielded by a consanguineous, married woman and man. Karyotyping of these phenotypically normal partners revealed inv(9)(p11q13) in all of the analyzed metaphases. We report for the first time, to our knowledge, that the pericentric inversion of chromosome 9 was correlated with recurrent hydatidiform moles. © 2012 by The American Society for Clinical Pathology.