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dc.contributor.authorMoralli, Daniela
dc.contributor.authorNudel, Ron
dc.contributor.authorChan, May T. M.
dc.contributor.authorGreen, Catherine M.
dc.contributor.authorVolpi, Emanuela V.
dc.contributor.authorBenítez Burraco, Antonio 
dc.contributor.authorNewbury, Dianne F.
dc.contributor.authorGarcía Bellido, Paloma
dc.identifier.citationMoralli, D., Nudel, R., Chan, M.T.M., Green, C.M., Volpi, E.V. ; Benítez Burraco, A., Newbury, D.F., García Bellido, P.: "Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2". Molecular Cytogenetics. 8:36, (2015). ISSN 1755-8166en_US
dc.description.abstractBackground: We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation. Results: Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position: 93,884,065-93,933,453, hg19) and 11p12 (chromosome position: 38,601,145-38,621,572, hg19). These regions contain only non-coding transcripts (ENSG00000232790 on 7p21.1 and TCONS_00013886, TCONS_00013887, TCONS_00014353, TCONS_00013888 on 7q21) indicating that no coding sequences are directly disrupted. The breakpoint on 7q31 mapped 200 kb downstream of FOXP2, a well-known language gene. No splice site or non-synonymous coding variants were found in the FOXP2 coding sequence. We were unable to detect any changes in the expression level of FOXP2 in fibroblast cells derived from the proband, although this may be the result of the low expression level of FOXP2 in these cells. Conclusions: We conclude that the phenotype observed in this patient either arises from a subtle change in FOXP2 regulation due to the disruption of a downstream element controlling its expression, or from the direct disruption of non-coding RNAs.en_US
dc.publisherBioMed Centralen_US
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.subject.otherLanguage impairmenten_US
dc.subject.otherChromosomal rearrangementen_US
dc.subject.otherFOXP2 regulationen_US
dc.subject.otherNon-coding elementsen_US
dc.titleLanguage impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2en_US

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