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bioRxiv · 10.1101/047241

Language impairment resulting from a de novo deletion of 7q32.1-q33: a case report

Maria Salud Jimenez-Romero·Montserrat Barcos-Martinez·Isabel Espejo-Portero·Antonio Benitez-Burraco
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Abstract

Chromosome 7 is a hot spot for cognitive disorders involving language deficits. We report on a girl who presents with a cognitive and speech delay, motor problems, hearing loss, and behavioral disturbances, and a de novo deletion within 7q32.1-q33 (chromosome position: chr7:127109685-132492196, hg 18). Several genes involved in brain development and function are located within the deleted region. Many of them are related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). The probands phenotype may result from a change in the expression level of some of these genes.

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Maria Salud Jimenez-Romero, Montserrat Barcos-Martinez, Isabel Espejo-Portero, Antonio Benitez-Burraco. 2016-04-06. Language impairment resulting from a de novo deletion of 7q32.1-q33: a case report. https://doi.org/10.1101/047241

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