Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions

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dc.authorwosidEr, Recep/HFZ-9751-2022
dc.contributor.authorTuray, Sevim
dc.contributor.authorEröz, Recep
dc.contributor.authorKaragün, Ebru
dc.date.accessioned2023-07-26T11:57:18Z
dc.date.available2023-07-26T11:57:18Z
dc.date.issued2022
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.description.abstractCopy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under follow-up due to epilepsy, developmental retardation, dysmorphic findings, and asymmetric overgrowth in our clinic since the age of six months. The parents had only 2q13 mutations. Copy number variation in 2q13 is associated with dysmorphic findings, psychiatric disorders, and developmental delays. However, the exact pathogenicity is not yet known. We think that 6p21.32 chromosomal deletion caused resistant epilepsy and lipodystrophy in this patient. We anticipate that this case will contribute to the literature by linking disorders caused by the current chromosomal abnormality to clinical findings.en_US
dc.identifier.doi10.29271/jcpsp.2022.06.808
dc.identifier.endpage810en_US
dc.identifier.issn1022-386X
dc.identifier.issn1681-7168
dc.identifier.issue6en_US
dc.identifier.pmid35686417en_US
dc.identifier.scopus2-s2.0-85131705837en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage808en_US
dc.identifier.urihttps://doi.org/10.29271/jcpsp.2022.06.808
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13117
dc.identifier.volume32en_US
dc.identifier.wosWOS:000850833000014en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorTuray, Sevim
dc.institutionauthorEröz, Recep
dc.institutionauthorKaragün, Ebru
dc.language.isoenen_US
dc.publisherColl Physicians & Surgeons Pakistanen_US
dc.relation.ispartofJcpsp-Journal of The College of Physicians and Surgeons Pakistanen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.subjectMyoclonic Astatic Seizure; Resistant Epilepsy; Dermal Atrophy; Chromosomal Microarray Analysisen_US
dc.titleMyoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regionsen_US
dc.typeArticleen_US

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