Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449;
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorDemir, Selma
dc.contributor.authorOzen, Yasemin
dc.contributor.authorMail, Cisem
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:17:27Z
dc.date.available2024-06-12T11:17:27Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThe aim of this study was to present genotype-phenotype correlations of pathogenic copy number variations (CNVs) on X chromosome. Clinical and microarray data of the cases were collected. Conventional cytogenetics and CytoSure 4x180K oligonucleotide array (Agilent Technologies, Inc.) (Comparative Genomic Hybridization - CGH) was applicated to all cases. Molecular and clinical characterisation of these CNVs was performed in this study. 18 cases were included in this study for having a pathogenic CNV on X chromosome. The changes were reported pathologically by evaluating break points, anomaly size, number of involved genes and their functions and phenotypic correlations. 16 cases with pathogenic CNVs of X chromosome were examined with the clinical findings of multiple congenital anomalies, mental retardation, eosophageal atresia, duodenal atresia, autism spectrum disorder, hypogonadotropic hypogonadism, dysmorphic features, muscular dystrophy, hydrocephaly, neuromotor growth retardation, trigonocephaly, high risk of prenatal screening test, recurrent pregnancy loss with reciprocal translocation, fetal loss with multiple congenital anomalies. 2 cases were diagnosed as Turner Syndrome with rare karyotypes and array-CGH results. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different CNVs detected on X chromosome. Atypical microdeletions/duplications allowed us to define minimal critical regions that could be responsible for specific clinical findings of the syndromes and to highlight some genes.en_US
dc.identifier.doi10.1016/j.humgen.2022.201034
dc.identifier.issn2773-0441
dc.identifier.scopus2-s2.0-85131438938en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1016/j.humgen.2022.201034
dc.identifier.urihttps://hdl.handle.net/20.500.14551/24691
dc.identifier.volume33en_US
dc.identifier.wosWOS:000912169600008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofHuman Geneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectX Chromosomeen_US
dc.subjectArray-CGHen_US
dc.subjectCopy Number Variationsen_US
dc.subjectMolecular Cytogenetic Characterizationen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectShort Statureen_US
dc.subjectXq21.31-Q21.32 Duplicationen_US
dc.subjectMale Fetusen_US
dc.subjectDeletionen_US
dc.subjectGeneen_US
dc.subjectMicrodeletionen_US
dc.subjectFamilyen_US
dc.subjectDiagnosisen_US
dc.titleGenotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridizationen_US
dc.typeArticleen_US

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