AbstractPericentric inversion in chromosome 1 was thought to cause male infertility through
spermatogenic impairment, regardless of the breakpoint position. However, carriers of
pericentric inversion in chromosome 1 have been reported with normal fertility and
familial transmission. Here, we report two cases of pericentric inversion in
chromosome 1. One case was detected in utero via amniocentesis, and
the other case was detected after the wife of the carrier experienced two spontaneous
abortions within 5 years of marriage. Here, the effect of the breakpoint position of
the inversion in chromosome 1 on male infertility is examined and compared with the
published cases. The association between the breakpoint of pericentric inversion in
chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that
the breakpoint position deserves attention from physicians in genetic counseling as
inversion carriers can produce offspring.
Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
