Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

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dc.contributor.authorBalkan, M.
dc.contributor.authorAkbas, H.
dc.contributor.authorIsi, H.
dc.contributor.authorOral, D.
dc.contributor.authorTurkyilmaz, A.
dc.contributor.authorKalkanli, S.
dc.contributor.authorSimsek, S.
dc.date.accessioned2024-04-24T17:24:22Z
dc.date.available2024-04-24T17:24:22Z
dc.date.issued2010
dc.departmentDicle Üniversitesien_US
dc.description.abstractWe reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.en_US
dc.identifier.doi10.4238/vol9-2gmr827
dc.identifier.endpage1103en_US
dc.identifier.issn1676-5680
dc.identifier.issue2en_US
dc.identifier.pmid20568054
dc.identifier.scopus2-s2.0-77954454400
dc.identifier.scopusqualityQ4
dc.identifier.startpage1094en_US
dc.identifier.urihttps://doi.org/10.4238/vol9-2gmr827
dc.identifier.urihttps://hdl.handle.net/11468/19634
dc.identifier.volume9en_US
dc.identifier.wosWOS:000280396600050
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherFunpec-Editoraen_US
dc.relation.ispartofGenetics and Molecular Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCytogeneticen_US
dc.subjectChromosomal Abnormalitiesen_US
dc.subjectGenetic Counselingen_US
dc.subjectTurkeyen_US
dc.titleCytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkeyen_US
dc.titleCytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey
dc.typeArticleen_US

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