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.2023-09-252023-09-252022-11-19Iwata-Otsubo A, Klee VH, Ahmad AA, Walsh LE, Breman AM. 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. Clin Case Rep. 2022;10(11):e6535. Published 2022 Nov 19. doi:10.1002/ccr3.6535https://hdl.handle.net/1805/35768Haploinsufficiency 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