A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect

Iwata-Otsubo, AikoKlee, Victoria H.Ahmad, Aaliya A.Walsh, Laurence E.Breman, Amy M.2023-10-262023-10-262022-11-19Iwata-Otsubo, A., Klee, V. H., Ahmad, A. A., Walsh, L. E., & Breman, A. M. (2022). A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect. Clinical Case Reports, 10(11), e6535. https://doi.org/10.1002/ccr3.6535https://hdl.handle.net/1805/36735Haploinsufficiency of FOXP2 causes FOXP2-related speech and language disorder. We report a 9.8 Mb deletion downstream of FOXP2 in a girl with speech and language impairment, developmental delay, and other features. We propose involvement of FOXP2 in pathogenesis of these phenotypes, likely due to positional effects on the gene.en-USAttribution-NonCommercial-NoDerivatives 4.0 International7q31CMAdeletionFOXP2languagepositional effectspeechA 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effectArticle