Change search
ReferencesLink to record
Permanent link

Direct link
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
Show others and affiliations
2011 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 19, no 9, 959-964 p.Article in journal (Refereed) Published
Abstract [en]

With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.

Place, publisher, year, edition, pages
Nature Publishing Group, 2011. Vol. 19, no 9, 959-964 p.
Keyword [en]
10p deletion, developmental delay, dysmorphic features, learning disability, mental retardation, WAC
National Category
Medical Genetics Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)
URN: urn:nbn:se:umu:diva-87103DOI: 10.1038/ejhg.2011.71ISI: 000294003100009PubMedID: 21522184OAI: diva2:706194
Available from: 2014-03-19 Created: 2014-03-19 Last updated: 2014-04-02Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Stattin, Eva-Lena
By organisation
Medical and Clinical Genetics
In the same journal
European Journal of Human Genetics
Medical GeneticsMedical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)

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: 27 hits
ReferencesLink to record
Permanent link

Direct link