Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

• Type of Material: Article
• Authors: Christa Martin, Emory University; MP Adam, Emory University; AN Justice, Emory University; S Schelley, Stanford University; A Kwan, Stanford University; L Hudgins, Stanford University
• Language: English
• Date: 2009-01-01
• Publisher: Elsevier: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2009 Mosby, Inc. All rights reserved.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.jpeds.2008.07.045
• Title of Journal or Parent Work: Journal of Pediatrics
• ISSN: 0022-3476
• Volume: 154
• Issue: 1
• Start Page: 143
• End Page: 146
• Keywords: MENTAL-RETARDATION; Life Sciences & Biomedicine; Science & Technology; tumor susceptibility; LI-FRAUMENI; Li-Fraumeni; DELETIONS; Peutz-Jeghers; array comparative genomic hybridization (aCGH); GENE; Pediatrics
• Research Categories: Psychology, Developmental; Biology, Genetics

Abstract

Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical utility of microarray-based comparative genomic hybridization in determining tumor susceptibility in 3 patients with dysmorphic features and developmental delay, likely decreasing both morbidity and mortality in these patients.