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Purpose

The purpose of this study was to evaluate the clinical usefulness of the array comparative genomic hybridization technique for the genetic analysis of patients with congenital ocular malformations.

Design

Laboratory investigation.

Methods

This was a multicenter study. Samples were collected from 37 patients with negative results for the routine diagnostic work-up, including normal karyotype and mutation analysis of appropriate genes. Samples from both parents also were tested. High-resolution genome-wide Agilent 244K oligoarray (Agilent Technologies) was applied. Confirmation of the results was obtained with independent techniques.

Results

Causal deletions were identified in 5 (13%) patients, affecting OTX2, FOXC1 and VPS13B (COH1), the downstream regulatory region of PAX6, and a 1,5 Megabases de novo deletion on chromosome 16.

Conclusions

This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. Moreover, this screening technique broadens the phenotypic and mutational spectrum associated with genes known to cause congenital ocular malformation."xsd:string
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http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Devriendt K."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Ayuso C."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Vermeesch J.R."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Thienpont B."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Fryns J.P."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Casteels I."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"de Ravel T."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Villaverde C."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/author"Balikova I."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/name"Am J Ophthalmol"xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/pages"1087-1094.e45"xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/title"High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations."xsd:string
http://purl.uniprot.org/citations/21353197http://purl.uniprot.org/core/volume"151"xsd:string
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