Case - Partial Trisomy 13q22-qter Associated to Leukoencephalopathy and Late Onset Generalised Epilepsy

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Partial Trisomy 13q22-qter Associated to Leukoencephalopathy and Late Onset Generalised Epilepsy

Presented by:	International Archives of Medicine / Renee Ribacoba, Manuel Menendez-Gonzalez, Ines Hernando, Javier Salas and Maria Luisa Giros
Summary points:	A 30-year-old presents after sustaining two unexplained falls and a generalised myoclonic seizure that was repeated three times in an 8-month period. This case report describes the various diagnostic tests, the diagnosis, and treatment outcome, and the findings from cytogenic chromosome analysis, and includes some images. The authors discuss the pathogenetics of trisomy 13q and other chomosomopathies, and they review the literature.
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