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Case Reports
. 2011 Sep;19(9):959-64.
doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27.

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

Christian Wentzel  1 , Evica Rajcan-Separovic, Claudia A L Ruivenkamp, Sandra Chantot-Bastaraud, Corinne Metay, Joris Andrieux, Göran Annerén, Antoinet C J Gijsbers, Luc Druart, Capucine Hyon, Marie-France Portnoi, Eva-Lena Stattin, Catherine Vincent-Delorme, Sarina G Kant, Michelle Steinraths, Sandrine Marlin, Irina Giurgea, Ann-Charlotte Thuresson
Affiliations
Case Reports

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

Christian Wentzel et al. Eur J Hum Genet. 2011 Sep.

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 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.

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Figures

Figure 1
Figure 1
(a) Patient 1 at age 4, (b) patient 2 at age 2 years, 5 months, (c) patient 3 at 11 years of age, (d) patient 4 at 3 years, 9 months, (e) Patient 5 at 3 years, 9 months and (f) patient 6 at 14 years of age.
Figure 2
Figure 2
Schematic illustration of chromosome 10 displaying the deletions at 10p12p11 in patients 1–6 and patient by Shadadpuri et al detected by microarray using the Ensembl browser. Deleted regions for the respective cases are shown as black bars. Smallest region of overlap (SRO) is indicated by vertical dotted lines. Positions are according to NCBI36 (hg18).
See this image and copyright information in PMC

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