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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ABSTRACT:
SUBMITTER: Iwata-Otsubo A
PROVIDER: S-EPMC9675869 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
A 9.8 Mb deletion at 7q31.2q31.31 downstream of <i>FOXP2</i> in an individual with speech and language impairment suggests a possible positional effect.
Iwata-Otsubo Aiko A Klee Victoria H VH Ahmad Aaliya A AA Walsh Laurence E LE Breman Amy M AM
Clinical case reports 20221119 11
Haploinsufficiency of <i>FOXP2</i> causes <i>FOXP2-</i>related speech and language disorder. We report a 9.8 Mb deletion downstream of <i>FOXP2</i> in a girl with speech and language impairment, developmental delay, and other features. We propose involvement of <i>FOXP2</i> in pathogenesis of these phenotypes, likely due to positional effects on the gene. ...[more]
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