Male infertility associated with de novo pericentric inversion of chromosome 1

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dc.contributor.authorBalasar, Ozgur
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorBalasar, Mehmet
dc.contributor.authorAcar, Hasan
dc.date.accessioned2020-03-26T19:42:02Z
dc.date.available2020-03-26T19:42:02Z
dc.date.issued2017
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractInversion occurs after two breaks in a chromosome have happened and the segment rotates 180 degrees before reinserting. Inversion carriers have produced abnormal gametes if there is an odd number crossing-over between the inverted and the normal homologous chromosomes causing a duplication or deletion. Reproductive risks such as infertility, abortion, stillbirth and birth of malformed child would be expected in that case. A 54-year-old male patient was consulted to our clinic for primary infertility. The routine chromosome study were applied using peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) banding, and centromer banding (C-banding) stains. Y chromosome microdeletions in the azoospermia factor (AZF) regions were analyzed with polymerase chain reaction. Additional test such as fluorescence in situ hybridization (FISH) was used to detect the sex-determining region of the Y chromosome (SRY). Semen analysis showed azoospermia. A large pericentric inversion of chromosome 1 46, XY, inv(1) (p22q32) was found in routine chromosome analysis. No microdeletions were seen in AZF regions. In our patient the presence of SRY region was observed by using FISH technique with SRY-specific probe. Men who have pericentric inversion of chromosome 1, appear to be at risk for infertility brought about by spermatogenic breakdown. The etiopathogenic relationship between azoospermia and pericentric inversion of chromosome 1 is discussed.en_US
dc.identifier.doi10.5152/tud.2017.79346en_US
dc.identifier.endpage562en_US
dc.identifier.issn2149-3235en_US
dc.identifier.issn2149-3057en_US
dc.identifier.issue4en_US
dc.identifier.pmid#YOKen_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage560en_US
dc.identifier.urihttps://dx.doi.org/10.5152/tud.2017.79346
dc.identifier.urihttps://hdl.handle.net/20.500.12395/35272
dc.identifier.volume40en_US
dc.identifier.wosWOS:000416270600030en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherAVESen_US
dc.relation.ispartofTURKISH JOURNAL OF UROLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAzoospermiaen_US
dc.subjectchromosome 1en_US
dc.subjectmale infertilityen_US
dc.subjectpericentric inversionen_US
dc.titleMale infertility associated with de novo pericentric inversion of chromosome 1en_US
dc.typeArticleen_US

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