Cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

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 FriendSharon M. Bain, Sui Yu, Kym Abbott, Sonny Bata, Yolanda Benard, J. Bethell, Drago Bratkovic, Yumin Chan, V. Chong, Richard Cockington, Maria Concepcion, Brian Conway, D. Corlis, Samuel Crafter, Mary Cossick, Liz Coventry, Luke Eckersley, Phil Egan, Gareth Forster, Liberty Gallus, Sanjay Gehlot, Damien Gilby, C. Goodall, Andrew Grieve, Shahid Haque, Tom Han, Afdal Ibrahim, Amita Ingole, Judy Jaensch, Deepa Jeyaseelan, A. Katdare, Stephen Klaric, Daniel Kritzinger, Christopher Lamb, Paul Lang, Sonja Latzel, Diana Lawrence, Christine Lee, Kathy Lee, Kerrie MacDonald, Paul Machet, Suja Mathew, Preveena Nair, Khurram Noori, Josephine Nozza, Michael Nugent, Nadine Ogle, M. O'Keefe, Greg Pallas, P. Parry, Chris Pearson, P. Petek, T. Pouras, Rick Power, Clair Pridmore, Patrick Quinn, Kavita Rasiah, Nicholas Ricci, James Rice, Michael Smiley, J. Smith, William Staridas, N. Stewart, Wakinyjan Tabart, Mark Thesinger, David Thomas, Reji Thomas, Suzanna Thompson, Andrew Tidemann, Con Tsourtos, Sonali Vasilunas, Colin Whyatt, Mandy Yiu

Research output: Contribution to journalReview articlepeer-review

19 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)41-45
Number of pages5
Issue number1
Publication statusPublished - 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine


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