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https://hdl.handle.net/2440/96289
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Type: | Journal article |
Title: | Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH |
Author: | Nicholl, J. Waters, W. Mulley, J.C. Suwalski, S. Brown, S. Hull, Y. Barnett, C. Haan, E. Thompson, E.M. Liebelt, J. Mcgregor, L. Harbord, M.G. Entwistle, J. Munt, C. White, D. Chitti, A. Baulderstone, D. Ketteridge, D. Array Referral Consortium, Friend, K. et al. |
Citation: | Pathology, 2014; 46(1):41-45 |
Publisher: | Lippincott Williams & Wilkins |
Issue Date: | 2014 |
ISSN: | 0031-3025 1465-3931 |
Statement of Responsibility: | Jillian Nicholl, Wendy Waters, John C. Mulley, Shanna Suwalski, Sue Brown, Yvonne Hull, Christopher Barnett, Eric Haan, Elizabeth M. Thompson, Jan Liebelt, Lesley McGregor, Michael G. Harbord, John Entwistle, Chris Munt, Dierdre White, Anthony Chitti, David Baulderstone, David Ketteridge, Array Referral Consortium, Kathryn Friend, Sharon M. Bain and Sui Yu |
Abstract: | The aim of this study was to determine prospectively the frequency of pathogenic chromosomal microdeletions and microduplications in a large group of referred patients with developmental delay (DD), intellectual disability (ID) or autism spectrum disorders (ASD) within a genetic diagnostic service. First tier testing was applied using a standardised oligo-array comparative genomic hybridization (CGH) platform, replacing conventional cytogenetic testing that would have been used in the past. Copy number variants (CNVs) found to be responsible for the clinical condition on the request form could all be subdivided into three groups: well established pathogenic microdeletion/microduplication/aneuploidy syndromes, predicted pathogenic CNVs as interpreted by the laboratory, and recently established pathogenic disease susceptibility CNVs. Totalled from these three groups, with CNVs of uncertain significance excluded, detection rates were: DD (13.0%), ID (15.6%), ASD (2.3%), ASD with DD (8.2%), ASD with ID (12.7%) and unexplained epilepsy with DD, ID and ASD (10.9%). The greater diagnostic sensitivity arising from routine application of array CGH, compared with previously used conventional cytogenetics, outweighs the interpretative issues for the reporting laboratory and referring clinician arising from detection of CNVs of uncertain significance. Precise determination of any previously hidden molecular defect responsible for the patient's condition is translated to improved genetic counselling. |
Keywords: | Array CGH; autism spectrum disorders; CNV; copy number variation; developmental delay; intellectual disability; molecular cytogenetics |
Rights: | © 2013 Royal College of Pathologists of Australasia |
DOI: | 10.1097/PAT.0000000000000043 |
Published version: | http://dx.doi.org/10.1097/pat.0000000000000043 |
Appears in Collections: | Aurora harvest 3 Medicine publications |
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