Abstract
Cytogenetic analysis of subependymal giant-cell astrocytomas (SEGAs) from two patients presenting the clinical symptoms of tuberous sclerosis complex (TSC) revealed clonal chromosomal changes, resulting in the partial loss of chromosome 22q in both tumors. Immunohistochemically, tumors exhibited features of glial differentiation, while ultrastructural studies identified the characteristic paracrystalline inclusions within the tumor cells. To our knowledge, it is the first cytogenetic description of SEGAs associated with TSC.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain Neoplasms / diagnostic imaging
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Brain Neoplasms / genetics*
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Brain Neoplasms / pathology
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Brain Neoplasms / surgery
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Child
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Chromosome Banding
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Chromosome Deletion*
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Chromosome Mapping
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Chromosomes, Human, Pair 2
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Chromosomes, Human, Pair 22*
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Glioma / diagnostic imaging
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Glioma / genetics*
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Glioma / pathology
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Glioma / surgery
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Humans
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Immunohistochemistry
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Inclusion Bodies / pathology
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Inclusion Bodies / ultrastructure
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Intellectual Disability
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Karyotyping
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Male
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Radiography