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Article dans une revue European Journal of Human Genetics Année : 2011

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

Résumé

With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has considerably improved. 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 Mb to 10.6 Mb. The smallest region of overlap is 306 kb, which includes gene, known to be associated with microtubule function and to play 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, while other features varied. All patients also displayed various visual impairments and 6 out of 7 patients had cardiac malformations. 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.
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Dates et versions

hal-00636187, version 1 (27-10-2011)

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Christian Wentzel, Evica Rajcan-Separovic, Claudia Ruivenkamp, Sandra Chantot-Bastaraud, Corinne Metay, et al.. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.71⟩. ⟨hal-00636187⟩
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