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We investigated the frequency and types of Y-chromosome  microdeletions and chromosomal anomalies in non-obstructive azoospermic and  severely oligozoospermic infertile males in northeastern China. The sample  consisted of 519 infertile males (456 azoospermic, 63 severely  oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome  analysis were performed on all patients and controls. Array-comparative genomic  hybridization was performed for three patients with chromosomal anomalies.  Fifty-nine of 519 patients (11.37%) had Y-chromosome microdeletions. Microdeletions  were found in 11.18% (51/456) of the non-obstructive azoospermic patients and  in 12.7% (8/63) of the severely oligozoospermic patients. Eleven of 51  non-obstructive azoospermic patients with Y-chromosome microdeletions had  multiple segmental deletions in the AZFb+c regions; four of these patients had  chromosomal anomalies. Our sample from northeastern China had a higher  frequency of microdeletions among severely oligozoospermic than among  non-obstructive azoospermic males.

Correlation of Y-chromosome multiple segmental deletions and chromosomal anomalies in non-obstructive azoospermic males from northeastern China