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

Jillian Nicholl, Wendy Waters, JC Mulley, Shann Suwalski, Sue Brown, Yvonne Hull, Christopher Barnett, Eric Haan, Elizabeth Thompson, Jan Liebelt, Lesley McGregor, Michael Harbord, John Entwistle, Chris Munt, Deirdre White, Anthony Chitti, David Baulderstone, David Ketteridge, Array Referral Consortium, Kathyrn FriendSharon Bain, Sui Yu, Kym Abbott, Sonny Bata, Yolanda Bernard, J Bethell, Drago Bratkovic, Yumin Chan, V Chong, R Cockington, Maria Concepcion, Brian Conway, D Corlis, Samuel Crafter, M Cossick, Linda Coventry, L 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, Richard Power, Claire Pridmore, Patrick Quinn, Kavita Rasiah, Nicholas Ricci, James Rice, Michael Smiley, Jennifer Smith, William Staridas, Nuala 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 journalArticlepeer-review

    15 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 - Jan 2014


    • Array CGH
    • Autism spectrum disorders
    • CNV
    • Copy number variation
    • Developmental delay
    • Intellectual disability
    • Molecular cytogenetics


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