Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest

家族性1号染色体臂间倒位(p34q23)和男性不育伴阶段特异性精子发生停滞

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Abstract

We report on two infertile brothers presenting with severe oligozoospermia or azoospermia. Testicular biopsy was performed on one of them and showed spermatogenic arrest at the level of primary spermatocytes. Both brothers were found to be heterozygous for a pericentric inversion of chromosome 1 (46,XY,inv(1)(p34q23)). The inversion chromosome was inherited through the maternal line, with no indication of subfertility in the probands' mother.

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