Communication deficits in a case of a deletion in 7q31.1-q31.33 encompassing FOXP2.
Copy number variants (CNVs) found in individuals with communication deficits provide a valuable window to the genetic causes of problems with language and, more generally, to the genetic foundation of the human-specific ability to learn and use languages. This paper reports on the language and commu...
| Publicado en: | Clinical Linguistics & Phonetics Vol. 37; no. 12; pp. 1157 - 1171 |
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| Autores principales: | , |
| Formato: | case study pictorial tables/charts tracings Journal Article |
| Publicado: |
Taylor & Francis Ltd
2023
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=174546382&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 174546382 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 02699206 B6X jtl: Clinical Linguistics & Phonetics issn: 02699206 maglogo: Y pubinfo: dt: 2023 vid: 37 iid: 12 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 174546382 157459662 174546382 174546382 10.1080/02699206.2022.2085174 174546382 ppf: 1157 ppct: 14 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Communication deficits in a case of a deletion in 7q31.1-q31.33 encompassing FOXP2. aug: au: Moreno Campos, Verónica Benítez-Burraco, Antonio affil: Department of Hispanic Studies, University of Castilla-La Mancha, Albacete, Spain sug: subj: Communicative Disorders Chromosome Disorders Genome Genetic Variation Female Child Chromosome Aberrations Speech Disorders Familial and Genetic Language Tests Cognition Disorders Communication Skills Language Development Child: 6-12 years Female ab: Copy number variants (CNVs) found in individuals with communication deficits provide a valuable window to the genetic causes of problems with language and, more generally, to the genetic foundation of the human-specific ability to learn and use languages. This paper reports on the language and communication problems of a patient with a microduplication in 22q11.23 and a microdeletion in 7q31.1-q1.33 encompassing FOXP2. The proband exhibits severe speech problems and moderate comprehension deficits, whereas her pragmatic abilities are a relative strength, as she uses gestures quite competently to compensate for her expressive issues. This profile is compatible with the deficiencies found in patients with similar CNVs, particularly with people bearing microdeletions in 7q31.1-q31.33. pubtype: Academic Journal doctype: case study pictorial tables/charts tracings Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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