Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2. Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] Journal article | | Title | Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2. | | Author(s) | Tomblin JB, O'Brien M, Shriberg LD, Williams C, Murray J, Patil S, Bjork J, Anderson S, Ballard K | | Institution | Department of Speech Pathology and Audiology, University of Iowa, WJSHC, Iowa City, IA 52245. E-mail: j-tomblin@uiowa.edu. | | Source | J Speech Lang Hear Res 2009 Oct; 52(5):1157-74. | | Abstract | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 19797137 |
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