Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report

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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, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidSAYIN, N. CENK/A-5801-2018
dc.contributor.authorInan, Cihan
dc.contributor.authorSayin, N. Cenk
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, Engin
dc.contributor.authorErzincan, Selen Gursoy
dc.contributor.authorUzun, Isil
dc.contributor.authorSutcu, Havva
dc.date.accessioned2024-06-12T11:13:55Z
dc.date.available2024-06-12T11:13:55Z
dc.date.issued2019
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: Schizencephaly is a neuronal migration anomaly characterized by presence of a cleft between ependymal layer of the ventricle and pia mater of the cerebral cortex. It may be associated with additional cerebral abnormalities, including polymicrogyria, pachygyria, gray matter heterotopy, ventriculomegaly and corpus callosum agenesis. Case Report: We present a female fetus with schizencephaly accompanied by occipital encephalocele, polymicrogyria, agenesis of the corpus callosum, dysmorphic facies and cardiac muscular ventricular septal defect. Array comparative genomic hybridization (array-cGH) analysis revealed a deletion of chromosome 22q13.32 including FAM19A5 gene that is a member of TAFA family. Conclusions: Schizencephaly may be accompanied by unexpected structural and genetic anomalies as in our case with occipital encephalocele, dysmorphic facies, cardiac ventricular septal defect and chromosome 22q13.32 deletion.en_US
dc.identifier.doi10.1080/15513815.2019.1604921
dc.identifier.endpage502en_US
dc.identifier.issn1551-3815
dc.identifier.issn1551-3823
dc.identifier.issue6en_US
dc.identifier.pmid31130048en_US
dc.identifier.scopus2-s2.0-85067668232en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage496en_US
dc.identifier.urihttps://doi.org/10.1080/15513815.2019.1604921
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23734
dc.identifier.volume38en_US
dc.identifier.wosWOS:000496350200006en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofFetal And Pediatric Pathologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectSchizencephalyen_US
dc.subjectOccipital Encephaloceleen_US
dc.subjectMutationen_US
dc.subjectFetusen_US
dc.subjectPrenatal-Diagnosisen_US
dc.subjectClinical Spectrumen_US
dc.subjectFetalen_US
dc.titleSchizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case reporten_US
dc.typeArticleen_US

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