학술논문
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.
Document Type
Article
Author
Source
Subject
*ENCEPHALOCELE
*VENTRICULAR septal defects
*COMPARATIVE genomic hybridization
*CHROMOSOMES
*AGENESIS of corpus callosum
*CEREBRAL cortex
*
*
*
*
*
Language
ISSN
1551-3815
Abstract
Background: 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. [ABSTRACT FROM AUTHOR]