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Autism spectrum disorder with microdeletion 10q26 by subtelomere FISH

Authors Tonk V, Wilson

Published 30 May 2011 Volume 2011:2 Pages 49—53


Review by Single anonymous peer review

Peer reviewer comments 3

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Vijay S Tonk1,2, Golder N Wilson1
1Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA; 2Departments of Pathology, Obstetrics and Gynecology, Texas Tech University Health Sciences Center, Lubbock, TX, USA

Abstract: An 11-year-old female with early feeding problems, mild motor delays, normal speech, subtle facial changes, social difficulties, anxiety and a diagnosis of Asperger disorder was found to have deletion of 10q26.3 by subtelomere fluorescent in situ hybridization (stF) analysis. Our patient and others with 10q26 aneuploidy add this region to 11 other autism susceptibility loci qualified by converging genome linkage/association, high resolution chromosome, and mutation studies in our review. We summarize these loci and the current spectrum of terminal 10q deletion cases.

Keywords: autism disorder, Asperger disorder, subtelomere FISH, microarray analysis, 10q26 deletion, gene changes in autism

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