Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
نویسندگان
چکیده
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.
منابع مشابه
Pericentric inversion in human chromosome 1 and the risk for male sterility.
A pericentric inversion in chromosome 1 of a severely oligospermic human male is reported. Pachytene analysis in microspread preparations shows an absence of full loop formation in the inversion bivalent and only the rare occurrence of a partial loop. The majority of cells exhibit extensive asynapsis across the inverted segment, or a normal looking synaptonemal complex indicative of heterologou...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 7 شماره
صفحات -
تاریخ انتشار 1994