Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2.
Purpose: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation...
| Publicado en: | Journal of Speech, Language & Hearing Research Vol. 52; no. 5; pp. 1157 - 1175 |
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| Autores principales: | , , , , , , , , |
| Formato: | Artículo |
| Publicado: |
American Speech-Language-Hearing Association
October 2009
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| Materias: | |
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ssf&AN=508095276&site=ehost-live header: @attributes: shortDbName: ssf uiTerm: 508095276 longDbName: Social Sciences Full Text (H.W. Wilson) uiTag: AN controlInfo: bkinfo: jinfo: jid: 10924388 1SM jtl: Journal of Speech, Language & Hearing Research issn: 10924388 maglogo: N pubinfo: dt: October 2009 vid: 52 iid: 5 pid: 42 pub: American Speech-Language-Hearing Association artinfo: ui: 508095276 10.1044/1092-4388(2009/07-0162) ppf: 1157 ppct: 18 formats: fmt: – @attributes: type: T – @attributes: type: P size: 3.8MB tig: atl: Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2. aug: au: Tomblin, J. Bruce O'Brien, Marlea Shriberg, Lawrence D. Williams, Charles Murray, Jeff Patil, Shivanand Bjork, Jonathan Anderson, Steve Ballard, Kirrie su: Chromosome abnormalities Speech disorders Genetic disorders Voice disorders sug: subj: Chromosome abnormalities Speech disorders Genetic disorders Voice disorders ab: Purpose: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2. Method: The breakpoint locations for T and B were identified by use of fluorescent in situ hybridization analysis followed by DNA sequencing using long-range polymer chain reaction amplification methods. The cognitive and language characteristics were obtained via the use of standardized tests of intelligence, receptive and expressive vocabulary and sentence use, and a spontaneous language sample. Results: The translocation breakpoints in T and B were found in FOXP2 on chromosome 7 and in RFC3 on chromosome 13. T and B's pattern of relative strengths and weaknesses across their cognitive and language performance was found to be similar to descriptions of the affected KE family members. Conclusions: Prior reports of individuals with chromosomal rearrangements of FOXP2 have emphasized their speech impairment. This study provides additional evidence that language—in particular, grammar—is likely to be influenced by abnormalities of FOXP2 function. Reprinted by permission of the publisher. pubtype: Academic Journal doctype: Article src: R language: English refInfo: copyright: @attributes: flag: N holdings: @attributes: islocal: N |
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