Journal article
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...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
-
-
(pdf, 833.3KB)
-
- Publisher copy:
- 10.1186/s13039-015-0148-1
- Publication website:
- http://www.molecularcytogenetics.org/content/8/1/36
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Funding
+ University of Oxford John Fell OUP Research Fund
More from this funder
Grant:
082/994,083/040
121/435
Bibliographic Details
- Publisher:
- Springer Publisher's website
- Journal:
- Molecular Cytogenetics
- Volume:
- 8
- Issue:
- 36
- Publication date:
- 2015-06-10
- Acceptance date:
- 2015-05-20
- DOI:
- EISSN:
-
1755-8166
- ISSN:
-
1755-8166
Item Description
- Language:
- English
- Keywords:
- UUID:
-
uuid:bdc1a9bc-37e8-4790-801e-41407c6d12e3
- Deposit date:
- 2015-07-17
If you are the owner of this record, you can report an update to it here: Report update to this record