Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach

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dc.contributor.authorYildiz, Onur
dc.contributor.authorSılan, Fatma
dc.contributor.authorKarakaya, Taner
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-01-27T20:59:55Z
dc.date.available2025-01-27T20:59:55Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBackground/aim: It is not always possible to determine the causative basis of pregnancy losses and even today it has been reported that 50% of cases with recurrent pregnancy loss (RPL) have no reason to be detected. In our study, it is aimed to reveal the copy number variations (CNVs) of the genes which presumably have a potential effect in individuals with RPL and contribute to subsequent functional studies in the follow-up. Materials and methods: We retrospectively evaluated the array-comparative genomic hybridization (aCGH) data of cytogenetically 64 normal individuals (21 couples, 11 unrelated women, and 11 unrelated men) who had applied to our outpatient clinic from January 2016 to December 2017, for the history of idiopathic two or more RPL. Results: A total of 83 CNVs were detected in 56 different chromosomal regions [36% (20/56) is deletion and 64% (36/56) is duplication] in 40/64 (62.5%) of the cases. Two detected deleterious CNVs encompassing 1p36.22-p36.21 and 10q11.22 chromosomal locus have been reported as pathogenic according to the Database of Genomic Variants (DGV). Conclusion: CNVs that may play a role in the genetic etiology of idiopathic RPL were revealed in our study and potential chromosomal loci were introduced to the literature for further analysis. The detection of CNVs and their association with reproduction such as RPL, infertility, and even other diseases will allow us to have more information about the clinical consequences and will make it possible to provide more accurate and comprehensive genetic counseling.
dc.identifier.doi10.55730/1300-0144.5511
dc.identifier.endpage1696
dc.identifier.issn1300-0144
dc.identifier.issn1303-6165
dc.identifier.issue5
dc.identifier.pmid36422498
dc.identifier.scopus2-s2.0-85140318706
dc.identifier.scopusqualityQ1
dc.identifier.startpage1689
dc.identifier.trdizinid1145267
dc.identifier.urihttps://doi.org/10.55730/1300-0144.5511
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1145267
dc.identifier.urihttps://hdl.handle.net/20.500.12428/26879
dc.identifier.volume52
dc.identifier.wosWOS:000890907200031
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTubitak Scientific & Technological Research Council Turkey
dc.relation.ispartofTurkish Journal of Medical Sciences
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectArray-comparative genomic hybridization
dc.subjectcopy number variation
dc.subjectrecurrent pregnancy loss
dc.titleCopy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach
dc.typeArticle

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