Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey

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dc.contributor.authorBalkan, M.
dc.contributor.authorTekes, S.
dc.contributor.authorGedik, A.
dc.date.accessioned2024-04-24T16:02:13Z
dc.date.available2024-04-24T16:02:13Z
dc.date.issued2008
dc.departmentDicle Üniversitesien_US
dc.description.abstractIn view of the genetic risks for the next generation, the importance of careful evaluation of karyotypes and AZF microdeletions in male infertility prior to assisted reproduction is evident. In the present study, it is aimed to investigate the frequency and types of both major chromosomal abnormalities by using standard cytogenetic methods and Y chromosome microdeletions of infertile males with azoospermia and oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in southeast Turkey. A total of 80 infertile males (52 were azoospermic, 25 oligospermic and 3 asthenospermic) were studied for the cytogenetic evaluation and molecular AZF screening program prior to use of assisted reproduction techniques. A detailed history was taken for each man. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Polymerase chain reaction (PCR) amplification by using 15 Y-specific sequence-tagged sites of AZF region was performed to screen the microdeletions in the AZF region of Y chromosome. Of 80 cases, 71 had normal karyotype (46,XY). The total prevalence of chromosomal abnormalities was found to be 11.2% (9/80), including seven patients with Klinefelter syndromes and two patients with balanced autosomal rearrangements. All of the patients with Klinefelter Syndrome had azoospermia, but carriers with translocation had oligospermia. The deletions of Y chromosome were seen in one patient (1.3%) with features of normal karyotype and azoospermia. Microdeletions were seen in the AZFc and AZFd regions. Neither AZFa nor AZFb microdeletions were detected. The occurrence of chromosomal anomalies and Y chromosome microdeletions among infertile males strongly suggests the need for routine genetic testing and counseling prior to employment of assisted reproduction techniques.en_US
dc.identifier.doi10.1007/s10815-008-9272-8
dc.identifier.endpage565en_US
dc.identifier.issn1058-0468
dc.identifier.issn1573-7330
dc.identifier.issue11-12en_US
dc.identifier.pmid18953646
dc.identifier.scopus2-s2.0-57349191531
dc.identifier.scopusqualityQ1
dc.identifier.startpage559en_US
dc.identifier.urihttps://doi.org/10.1007/s10815-008-9272-8
dc.identifier.urihttps://hdl.handle.net/11468/14692
dc.identifier.volume25en_US
dc.identifier.wosWOS:000261411000009
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Assisted Reproduction and Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInfertilityen_US
dc.subjectChromosomeen_US
dc.subjectAzfen_US
dc.subjectAzoospermiaen_US
dc.subjectOligozoospermiaen_US
dc.titleCytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkeyen_US
dc.titleCytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey
dc.typeArticleen_US

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