Summary
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 groups. 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<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.
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Yamada, K. Population studies of inv(9) chromosomes in 4,300 japanese: Incidence, sex difference and clinical significance. Jap J Human Genet 37, 293–301 (1992). https://doi.org/10.1007/BF01883320
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DOI: https://doi.org/10.1007/BF01883320
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