A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.

Reference men with b2/b4 duplication compared to subjects with no AZFc rearrangements showed a trend for lower follicle-stimulating hormone (FSH) (median 2.3 [5–95% range 1.4–7.5] vs 3.2 [1.3–7.1] IU/l; p<0.05) and luteinizing hormone (LH) (3.1 [1.7–5.0] vs 3.8 (1.7–7.2) IU/l; p<0.05).

also in 53,322 other papers

Notably, there was a highly significant overrepresentation of Y chromosomes belonging to lineage R1a1-M458 in the gr/gr deletion carriers compared to the known Estonian population frequency (22.7% vs 5.1%; Fisher’s exact test, p=5.3×10 −4 , OR = 5.5 [95% CI 2.2–13.7]; Figure 2B , Supplementary file 5 ; Underhill et al., 2015 ).

also in 132,142 other papers