Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility.

A 38-year-old male with primary infertility was referred for cytogenetic investigation. Karyotype analysis revealed a 46,XY,t(6;21)(p21.1;pl3) translocation. The Ag-nucleolar organizer regions (NORs) banding technique demonstrated that the 21p NORs were retained in the derivative and actively transcribed. Family studies showed that three brothers, two sisters and their mother carried the t(6;21). All carrier males suffered from primary infertility with severe oligoasthenoteratospermia or azoospermia, whereas at least two of the three carrier women were fertile. The region of the translocation breakpoint was narrowed down cytogenetically and by fluorescence in situ hybridisation as 21p13 and 6p21.1. Southern blot analysis showed that the gene ZNF165, which maps to this region and which is specifically expressed in the testis, was not disrupted by the translocation. However, studies performed on testicular biopsy showed spermatocyte meiosis anomalies. We discuss the possible mechanisms by which the translocation might affect meiosis in spermatogenesis and lead to infertility.

Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies.

An apparently balanced reciprocal translocation 46,X,t(Y;6) (q11.23 approximately q12;p11.1) was observed in an infertile man with severe oligozooteratozoospermia. Different mitotic chromosome banding patterns were performed and fluorescence in situ hybridization indicated a breakpoint in the fluorescent Yq heterochromatin. Molecular genetic deletion experiments for the azoospermia factor region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man's infertility could be due to the pairing behaviour of the Y;6 translocation chromosome with the X chromosome visualised by synaptonemal complex analysis at the electron microscopy level. The morphological appearance of the normal chromosome 6 and the Y;6 translocated chromosome included in the compartment of the sex vesicle may allow an explanation of the degeneration of most spermatocytes after the pachytene stage.

Meiotic study of hybrids in the genus Eulemur and taxonomic considerations.

A reproductive study was conducted on seven hybrids of Eulemur showing chromosomal multivalents involving at least four chromosomes at the pachytene stage. Three individuals were infertile hybrids and one presented a reduced spermatogenesis. In three out of these four hybrids, multivalents were associated with the sex bivalent in a large number of spermatocytes (23%). The relative importance of the reduction of fertility in males linked to chromosomal multivalent formation as well as the genetic background is discussed with regard to the use of cytogenetic data for systematics. Our findings argue for the classification of Eulemur fulvus collaris and E. f. albocollaris in two separate species. In regard to their repartition area, their separation along a linear north-south axis in Madagascar is discussed.

Synaptic behaviour of sex chromosome in two XYY men.

Analysis of meiotic pairing behavior in two XYY males presenting at subfertility clinic brings evidence that the abnormal mode of pairing caused by the presence of the extra Y chromosome, disturbs achievement of spermatogenesis resulting in severe oligoastheno-teratozoospermia. In contrast, the loss of the supernumerary Y before meiosis, allows achievement and normal sperm production.