ABSTRACT

The pericentric inversion of chromosome 9 consisting heterochromatin region is one of the common variatons in human. Despite being categorized as a minor chromosomal rearrangement which does not correlate with phenotype abnormalities, reports in the literature raised the association with subfertility, repeated pregnancy loss, bad obstetric history, congenital anomalies and abnormal clinical phenotypes. Twenty six year-old male infertile patient referred to Medical Genetics clinic. The physical examination and hormon profiles were normal. Family history was not specific. Cytogenetic analysis result of the patient revealed46,XY,inv(9)(p11q13)×2 karyotype. The cytogenetic analysis of his mother and father revealed to have heterozygous inv(9)(p11q13) karyotypes. In this case, we discussed the homozygous pericentric inversion of chromosome 9 karyotype which is an unusual condition as a cause of infertility in the view of the literature