Resumo

ANTUNES, Andressa Moreira; JULIO-COSTA, Annelise  e  HAASE, Vitor Geraldi. Karyotypic variations in Turner Syndrome: an analysis of the cognitive phenotype. Gerais, Rev. Interinst. Psicol. [online]. 2015, vol.8, n.2, pp. 348-358. ISSN 1983-8220.

Turner syndrome is a genetic condition that results from deletion of the second sex chromosome (45, X). However some individuals exhibit a mixture of cells, which is known as mosaicism. In women with complete deletion there is a cognitive discrepancy between verbal and non-verbal skills, the latter being the most affected. Nevertheless, it is believed that genetic heterogeneity is one of the points responsible for variations in the individuals' cognitive phenotype. Thus, this study aimed to investigate differences in verbal and non-verbal abilities, evaluated by the Wechsler Intelligence scales, in 5 Turner syndrome women with different karyotypes. The study revealed that karyotype variation reflected in differences in the participants' cognitive profile. Such results are important since they directly influence the methods of assessment and intervention of a specific population, as well as indicating how such genetic variation impacts on cognition.

Palavras-chave : Turner syndrome; Mosaicism; Cognitive profile.

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