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

Abstract

Abstract Haploinsufficiency 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.

Keywords

• 7q31
• CMA
• deletion
• FOXP2
• language
• positional effect