RT Journal Article
SR Electronic
T1 Language impairment resulting from a de novo deletion of 7q32.1-q33: a case report
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 047241
DO 10.1101/047241
A1 Jiménez-Romero, Ma Salud
A1 Barcos-Martínez, Montserrat
A1 Espejo-Portero, Isabel
A1 Benítez-Burraco, Antonio
YR 2016
UL http://biorxiv.org/content/early/2016/04/06/047241.abstract
AB 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.