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Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2

Abstract:

Background 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 posi...

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Publication status:
Published
Peer review status:
Peer reviewed

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University of Oxford
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Department:
University of Oxford
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Department:
University of Oxford
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Department:
University of Oxford
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Department:
University of Oxford
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Grant:
082/994, 083/040 and 121/435
Funding agency for:
Project
Publisher:
Springer Publisher's website
Journal:
Molecular Cytogenetics
Volume:
8
Issue:
36
Publication date:
2015-10-06
Acceptance date:
2015-05-20
DOI:
EISSN:
1755-8166
ISSN:
1755-8166

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