Abstract

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

Author(s): R.-L. Dai, R.-X. Wang, J.-L. Jin, G.-N. Niu, J.-Y. Lee, S.-B. Li and R.-Z. Liu

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.

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