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dc.contributor.authorGümüş, Evren
dc.date.accessioned2020-11-20T16:50:34Z
dc.date.available2020-11-20T16:50:34Z
dc.date.issued2020
dc.identifier.issn2228-5806
dc.identifier.urihttps://doi.org/10.22074/cellj.2020.6606
dc.identifier.urihttps://hdl.handle.net/20.500.12809/6264
dc.description.abstractIntellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ID, speech and developmental delays. This is the first report from Turkey with this form of ID. The present paper demonstrates that application of microarray technique to help clinicians, especially when clinical diagnosis includes a complex group of disorders (such as ID) and differential diagnostic list is broad. © 2020 Royan Institute (ACECR). All rights reserved.en_US
dc.item-language.isoengen_US
dc.publisherRoyan Institute (ACECR)en_US
dc.item-rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDeletionen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectMicroarrayen_US
dc.subjectTUSC3en_US
dc.titleA Homozygous 1.16 Megabases Microdeletion at 8p22 including the Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delayen_US
dc.item-typearticleen_US
dc.contributor.departmentMÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.contributor.institutionauthorGümüş, Evren
dc.identifier.doi10.22074/cellj.2020.6606
dc.identifier.volume22en_US
dc.identifier.issue1en_US
dc.identifier.startpage128en_US
dc.identifier.endpage132en_US
dc.relation.journalCell Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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