TY - JOUR T1 - Language impairment resulting from a de novo deletion of 7q32.1-q33: a case report JF - bioRxiv DO - 10.1101/047241 SP - 047241 AU - Ma Salud Jiménez-Romero AU - Montserrat Barcos-Martínez AU - Isabel Espejo-Portero AU - Antonio Benítez-Burraco Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/04/06/047241.abstract N2 - 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 proband’s phenotype may result from a change in the expression level of some of these genes. ER -