GENOME-WIDE COPY NUMBER VARIATION ANALYSIS IN IDIOPATHIC INTELLECTUAL DISABILITY/MULTIPLE CONGENITAL ANOMALIES

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dc.contributor.authorPariltay, E.
dc.contributor.authorDurmaz, A.
dc.contributor.authorDurmaz, B.
dc.contributor.authorAykut, A.
dc.contributor.authorOnay, H.
dc.contributor.authorAk, H.
dc.contributor.authorAydin, H. H.
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorCogulu, O.
dc.date.accessioned2019-10-27T22:05:50Z
dc.date.available2019-10-27T22:05:50Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractGenome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies: New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10 % of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb-6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.en_US
dc.identifier.endpage229en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid25059023en_US
dc.identifier.startpage221en_US
dc.identifier.urihttps://hdl.handle.net/11454/48614
dc.identifier.volume25en_US
dc.identifier.wosWOS:000338752600014en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectMultiple congenital anomaliesen_US
dc.subjectMicro arrayen_US
dc.titleGENOME-WIDE COPY NUMBER VARIATION ANALYSIS IN IDIOPATHIC INTELLECTUAL DISABILITY/MULTIPLE CONGENITAL ANOMALIESen_US
dc.typeArticleen_US

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