{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kikas T"],"funding":["Eesti Teadusagentuur"],"pagination":["574"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9834233"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu University Hospital, Estonia. A two-fold higher representation of > 1 Mb CNVs was observed in men with SPGF (13%, n = 28) compared to controls (6.5%, n = 4). Seven patients with SPGF were identified as carriers of microdeletions (1q21.1; 2.4 Mb) or microduplications (3p26.3, 1.1 Mb; 7p22.3-p22.2, 1.56 Mb; 10q11.22, 1.42 Mb, three cases; Xp22.33; 2.3 Mb) linked to severe congenital conditions. Large autosomal CNV carriers had oligozoospermia, reduced or low-normal bitesticular volume (22-28 ml). The 7p22.3-p22.2 microduplication "],"journal":["Scientific reports"],"pubmed_title":["Microdeletions and microduplications linked to severe congenital disorders in infertile men."],"pmcid":["PMC9834233"],"funding_grant_id":["PRG1021, IUT34-12"],"pubmed_authors":["Reiman M","Kikas T","Punab AM","Punab M","Tjagur S","Poolamets O","Kasak L","Korrovits P","Pomm K","Laan M","Vihljajev V"],"additional_accession":[]},"is_claimable":false,"name":"Microdeletions and microduplications linked to severe congenital disorders in infertile men.","description":"Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu University Hospital, Estonia. A two-fold higher representation of > 1 Mb CNVs was observed in men with SPGF (13%, n = 28) compared to controls (6.5%, n = 4). Seven patients with SPGF were identified as carriers of microdeletions (1q21.1; 2.4 Mb) or microduplications (3p26.3, 1.1 Mb; 7p22.3-p22.2, 1.56 Mb; 10q11.22, 1.42 Mb, three cases; Xp22.33; 2.3 Mb) linked to severe congenital conditions. Large autosomal CNV carriers had oligozoospermia, reduced or low-normal bitesticular volume (22-28 ml). The 7p22.3-p22.2 microduplication ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-05-28T06:11:12.108Z","creation":"2025-04-05T23:31:47.416Z"},"accession":"S-EPMC9834233","cross_references":{"pubmed":["36631630"],"doi":["10.1038/s41598-023-27750-w"]}}