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Population incidence of a chromosome 9 with an inversion of qh, inv(9), was surveyed using C-banding in a total of 4,367 Japanese which consisted of five patient groups and a normal control group. The inv(9) incidence was 1.65% in the normal control group (n = 1,513) and 1.52% in the Down syndrome patient group (n = 1,246). The incidence of female carriers was 1.7 times higher than that of male carriers in the above two groups. The sex difference was significant (p &lt; 0.05). Moreover, the incidence in the 47,XXY male group (n = 277) was slightly higher than female carrier incidences. The excess of carriers about 2 times was observed in the habitual abortion couple group (n = 694) and the spontaneous abortus group (n = 181), both having normal karyotypes. The present data probably indicate the existence of a genetic effect of inv(9) on human reproductive performance, while they could not explain the sex difference found in inv(9) carriers. Our speculation for the sex difference has been presented.

Population studies of inv(9) chromosomes in 4,300 japanese: Incidence, sex difference and clinical significance