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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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, Aiko; Klee, Victoria H.; Ahmad, Aaliya A.; Walsh, Laurence E.; Breman, Amy M.

Clinical case reports, November 2022, Volume: 10, Issue: 11

Journal Article

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. Chromosomal deletions nearby but not involving FOXP2 may be a cause of FOXP2‐related speech and language disorder due to a positional effect on the gene.

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Iwata‐Otsubo, Aiko | Klee, Victoria H. | Ahmad, Aaliya A. | Walsh, Laurence E. | Breman, Amy M.

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