Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
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
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 10Mb 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
2011. Vol. 19, no 9, 959-964 p.
10p deletion, developmental delay, dysmorphic features, learning disability, mental retardation, WAC
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-158299DOI: 10.1038/ejhg.2011.71ISI: 000294003100009OAI: oai:DiVA.org:uu-158299DiVA: diva2:439315