Duplications in 19p13.3 are associated with male infertility.

ABSTRACT:

Purpose

To identify genomic imbalances and candidate loci in idiopathic male infertility.

Methods

Affymetrix CytoScan 750K Array was used to analyze genomic imbalances and candidate loci in 34 idiopathic infertile cases of different phenotypes (hypo-spermatogenesis, n = 8; maturation arrest, n = 7; and Sertoli cell-only syndrome, n = 13, severe oligozoospermia, n = 6, and 10 normozoospermic fertile men). Ten ethnically matched controls were screened for comparison.

Results

The cytogenetic array analysis detected a genomic gain at the 19p13.3 region in 9 (26.47%) cases, with the highest frequency in patients with Sertoli cell-only syndrome (SCOS) (38%). Its complete absence in the control group suggests its likely pathogenic nature. In addition to Y-classical, micro, a

SUBMITTER: Singh V 

PROVIDER: S-EPMC6823329 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature