Noncentromeric heterochromatic regions are the last to synapse. The inter-individual variation observed in the incidence of gaps and splits in these regions may be explained by the heteromorphism of these regions in the general population. The presence of synaptic anomalies in other SC regions may indicate nuclei with a severely affected synapsis. Noncentromeric heterochromatic regions might play a role in the association of autosomal SC15 and SC21 with the XY pair.
Biochemical criteria for prostate biopsy may be modified in patients with a history of lower urinary tract infections due to variations greater than those explained by intraindividual biological variations, and may be influenced by the antibiotic treatment. These results suggest that subclinical inflammatory foci may influence PSA and %f-PSA.
The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y alpha-satellite, Y alpha-satellite III, non-alpha-satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA-tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter-->p11.32::p11.32-->qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32
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