uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability: further delineation of the 6q14 microdeletion syndrome and review of the literature
Show others and affiliations
2012 (English)In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 55, no 8-9, 490-497 p.Article in journal (Refereed) Published
Abstract [en]

Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.

Place, publisher, year, edition, pages
2012. Vol. 55, no 8-9, 490-497 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-179052DOI: 10.1016/j.ejmg.2012.03.003ISI: 000307540600010PubMedID: 22561202OAI: oai:DiVA.org:uu-179052DiVA: diva2:542997
Available from: 2012-08-06 Created: 2012-08-06 Last updated: 2013-09-17Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Thuresson, Ann-CharlotteAnnerén, Göran
By organisation
Medical GeneticsScience for Life Laboratory, SciLifeLab
In the same journal
European Journal of Medical Genetics
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 322 hits
ReferencesLink to record
Permanent link

Direct link