Chromosomopathies and language: phonetic-phonological alterations associated with a microduplication in the chromo-some 1q21.1. Study of a case

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https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.19

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315-326
Published: 03-09-2020
PlumX

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Abstract

This paper deals with the linguistic study of a type of Chromosomopathy, specifically, microduplication in chromosome 1.21q1 (study of a case). This type of genetic alterations is of low prevalence, so much is unknown about their characteristics, and even more, about their influence on language, communication skills and learning. This study draws attention to the phonetic-phonological component. In order to study this level, we have made use of a series of examinations and standardized tests, for instance: Clinical Evaluation of Language Fundamentals (CELF), Phonological Assessment Test of Laura Bosch, Induced Phonological Record, Diphthong and Triphthong Test) and spontaneous speech samples. Throughout the analysis of the data obtained in the tests, we will study the phonological alterations in oral productions, determining the presence or absence of articulatory problems. Finally, we will analyse the structures and characteristics of these altered productions, highlighting their influence on the linguistic-communicative capacity of the studied patient.

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Rodríguez Palomero, J., Jiménez Romero, M. S., & Benítez-Burraco, A. (2020). Chromosomopathies and language: phonetic-phonological alterations associated with a microduplication in the chromo-some 1q21.1. Study of a case. Pragmalingüística, (2), 315–326. https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.19

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