Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

ABSTRACT: 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 ey

SUBMITTER: Wentzel C 

PROVIDER: S-EPMC3179368 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature