- Abstract:
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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...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Files:
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(pdf, 833.3KB)
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- Publisher copy:
- 10.1186/s13039-015-0148-1
- Publication website:
- http://www.molecularcytogenetics.org/content/8/1/36
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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:
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1755-8166
- ISSN:
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1755-8166
- Language:
- English
- Keywords:
Journal article
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2
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+ University of Oxford John Fell OUP Research Fund
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