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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dc.contributor.authorIwata-Otsubo, Aiko
dc.contributor.authorKlee, Victoria H.
dc.contributor.authorAhmad, Aaliya A.
dc.contributor.authorWalsh, Laurence E.
dc.contributor.authorBreman, Amy M.
dc.contributor.departmentMedical and Molecular Genetics, School of Medicine
dc.date.accessioned2023-09-25T14:54:58Z
dc.date.available2023-09-25T14:54:58Z
dc.date.issued2022-11-19
dc.description.abstractHaploinsufficiency 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.
dc.eprint.versionFinal published version
dc.identifier.citationIwata-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/ccr3.6535
dc.identifier.urihttps://hdl.handle.net/1805/35768
dc.language.isoen_US
dc.publisherWiley
dc.relation.isversionof10.1002/ccr3.6535
dc.relation.journalClinical Case Reports
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourcePMC
dc.subject7q31
dc.subjectCMA
dc.subjectDeletion
dc.subjectFOXP2
dc.subjectLanguage
dc.subjectPositional effect
dc.subjectSpeech
dc.titleA 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect
dc.typeArticle
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