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
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2022-11-19
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American English
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Wiley
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.
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Iwata-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/ccr3.6535
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Clinical Case Reports
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Final published version