ICNC2018 Abstracts & Symposia Proposals, ICNC 2014

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THE CROMOSSOME 14q TERMINAL DELETION SYNDROME: CASE REPORT WITH EMPHASIS ON NEUROLOGICAL ASPECTS
Clay Brites, Sylvia Maria Ciasca, Salmo Raskin

Last modified: 2014-04-03

Abstract


Scarce descriptions concerning the phenotype of children with chromosome 14 terminal deletion show the fewness of this genetic pathology. The clinic, neuropsychological and genetic profiles accomplished and described in this case report bring new information and phenotypic dimensions for this syndrome. This article also makes a brief literature review and compares it to the phenotype of this patient contributing for a better diagnostic and therapeutic propaedeutic in order to contribute in the elucidation of new cases.


Keywords


14q terminal deletion syndrome; neuropsychological analyses; epilepsy; delay development

References


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