Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
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.
Meschede
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Institute of Reproductive Medicine of the University, Münster, Germany.
Froster
U G
UG
Bergmann
M
M
Nieschlag
E
E
D000328:Adult; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D010375:Pedigree; D013737:Testis / Q000473:pathology