ERIC Number: EJ859446
Record Type: Journal
Publication Date: 2009-Oct
Abstractor: As Provided
Reference Count: 0
Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving "FOXP2"
Tomblin, J. Bruce; O'Brien, Marlea; Shriberg, Lawrence D.; Williams, Charles; Murray, Jeff; Patil, Shivanand; Bjork, Jonathan; Anderson, Steve; Ballard, Kirrie
Journal of Speech, Language, and Hearing Research, v52 n5 p1157-1174 Oct 2009
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.
Descriptors: Mothers, Daughters, Family (Sociological Unit), Genetic Disorders, Thinking Skills, Language Skills, Speech Impairments, Receptive Language, Expressive Language, Sentences, Grammar, Intelligence Tests, Language Tests
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A