Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving "FOXP2"

Autor/inn/en	Tomblin, J. Bruce; O'Brien, Marlea; Shriberg, Lawrence D.; Williams, Charles; Murray, Jeff; Patil, Shivanand; Bjork, Jonathan; Anderson, Steve; Ballard, Kirrie
Titel	Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving "FOXP2"
Quelle	In: Journal of Speech, Language, and Hearing Research, 52 (2009) 5, S.1157-1174 (18 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1092-4388
DOI	10.1044/1092-4388(2009/07-0162)
Schlagwörter	Mothers; Daughters; Family (Sociological Unit); Genetic Disorders; Thinking Skills; Language Skills; Speech Impairments; Receptive Language; Expressive Language; Sentences; Grammar; Intelligence Tests; Language Tests + Suchen Sie Ihr Suchwort? Mother; Mutter; Daughter; Tochter; Familie; Denkfähigkeit; Language skill; Sprachkompetenz; Speech impairment; Speech handicap; Speech handicaps; Language handicps; Language impairments; Sprachbehinderung; Rezeptive Kommunikationsfähigkeit; Sentence analysis; Satzanalyse; Grammatik; Intelligence test; Intelligenztest; Language test; Sprachtest
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10